Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5189
Gene name Gene Name - the full gene name approved by the HGNC.	Peroxisomal biogenesis factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PEX1
Synonyms (NCBI Gene) Gene synonyms aliases	HMLR1, PBD1A, PBD1B, ZWS, ZWS1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q21.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in

Show/Hide all(102)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61750406	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs61750409	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs61750412	TG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs61750414	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs61750415	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs61750417	G>A,C	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs61750418	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs61750420	C>T	Pathogenic, not-provided	Non coding transcript variant, missense variant, coding sequence variant
rs61750422	G>A,C,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, synonymous variant, coding sequence variant
rs61750423	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs112688556	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs121434455	A>G	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs139919229	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs141764012	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs144942544	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs145153467	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs149806989	G>A,C	Uncertain-significance, pathogenic, likely-pathogenic	Upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs150667796	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs151041559	G>C	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs199647157	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs199716270	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs201415996	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs201719745	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs267608176	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs267608178	TTATC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs368714078	C>G,T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, upstream transcript variant
rs370483961	C>G,T	Pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs371890000	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs398123408	->TCCACACTG	Pathogenic, likely-pathogenic	Non coding transcript variant, inframe insertion, coding sequence variant, intron variant
rs398123409	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs565049190	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs749067142	TT>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs751829426	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs754983126	C>A,T	Likely-pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, coding sequence variant, missense variant
rs756876301	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs757668497	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant
rs762852144	C>A,T	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs766947924	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs778871894	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs786204544	GTTTG>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs786204606	TG>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs786204638	AG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs786204743	GA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs786205655	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs786205656	CTGA>-	Likely-pathogenic	Frameshift variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs863225084	A>C	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs866144313	C>A,T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, splice donor variant, upstream transcript variant
rs886037783	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886043479	T>-	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1028247729	C>A,G	Likely-pathogenic, pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1057517463	->C	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517464	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, intron variant
rs1057517465	T>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517468	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517469	C>T	Likely-pathogenic	Splice donor variant
rs1057517470	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517478	C>-	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1057517479	C>A	Pathogenic, likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1057517485	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517486	->ATGGCTG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1057517487	C>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1057517488	CT>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517489	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057517490	C>A,T	Likely-pathogenic	Splice donor variant, intron variant
rs1057517497	T>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517499	TAAAG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517500	T>C,G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, splice acceptor variant
rs1057517503	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1057517505	->TATA	Likely-pathogenic	Stop gained, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, inframe indel, non coding transcript variant
rs1057517506	->G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057517520	T>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517522	A>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057517529	TT>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1256376226	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1398892633	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1408895107	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant
rs1434174453	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs1478905473	A>C,G	Likely-pathogenic	Intron variant, splice donor variant
rs1554369227	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554369234	T>C	Likely-pathogenic	Splice acceptor variant
rs1554370868	->T,TT	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554372074	AAGCCGCTGGCTCTGCACCGCATCAGGACTGTGCTCATGTTCCGGGACAGCAGGCAGTCCAGCAATGAGGTCAAGGTCATCCAGCAGGACAACAGATGGCTGCATCCACACTGCCTCTGAGAAAGCCACCTCTAGGGTTTTTTGTATGTTTTCAAGCCT>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, inframe deletion
rs1554372180	T>-,TT	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1554372561	->CA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554372756	CTGTGAGTAAAAGAGCTCCATTCCTAAGTCCTGCAACAAGAGACATCAGCTGCC>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, initiator codon variant, inframe deletion, non coding transcript variant, 5 prime UTR variant
rs1554373578	A>G	Likely-pathogenic	Splice donor variant
rs1554373787	A>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1554373801	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1554375511	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant
rs1554375599	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, stop gained
rs1554375661	C>G,T	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1554376597	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1562857198	A>G	Likely-pathogenic	Splice donor variant
rs1562857871	C>A	Pathogenic	Splice donor variant
rs1585224312	A>G	Likely-pathogenic	Splice donor variant
rs1585231093	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1585238595	->C	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1585244586	C>T	Pathogenic	Splice donor variant
rs1585248089	A>C	Likely-pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1585254187	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1585255490	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1585260993	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant

Show/Hide all(7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046918	hsa-miR-221-3p	CLASH	23622248
MIRT1225487	hsa-miR-3653	CLIP-seq
MIRT1225488	hsa-miR-3658	CLIP-seq
MIRT1225489	hsa-miR-376a	CLIP-seq
MIRT1225490	hsa-miR-376b	CLIP-seq
MIRT1225491	hsa-miR-4760-3p	CLIP-seq
MIRT1556802	hsa-miR-651	CLIP-seq

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	9588209, 16257970, 16854980, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	16854980
GO:0005737	Component	Cytoplasm	IDA	9588209
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	16854980
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	21362118
GO:0005778	Component	Peroxisomal membrane	IDA	11439091
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	16854980
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IMP	11439091, 16854980
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	IMP	11439091
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IBA
GO:0016558	Process	Protein import into peroxisome matrix	IDA	21976670
GO:0016558	Process	Protein import into peroxisome matrix	IMP	9398847
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16854980
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16314507, 16854980, 19208625, 21362118, 29884772
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IMP	16854980
GO:0043335	Process	Protein unfolding	IBA
GO:0043335	Process	Protein unfolding	IDA	16854980
GO:0043335	Process	Protein unfolding	IDA	16854980, 29884772
GO:0044877	Function	Protein-containing complex binding	IDA	16854980
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0060152	Process	Microtubule-based peroxisome localization	IMP	16449325
GO:0060152	Process	Microtubule-based peroxisome localization	IMP	16449325
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0140036	Function	Ubiquitin-modified protein reader activity	IDA	19208625, 29884772
GO:0140318	Function	Protein transporter activity	IDA	16854980, 21362118, 29884772

MIM	HGNC	e!Ensembl
602136	8850	ENSG00000127980

Protein

UniProt ID

O43933

Protein name

Peroxisomal ATPase PEX1 (EC 3.6.4.-) (Peroxin-1) (Peroxisome biogenesis disorder protein 1) (Peroxisome biogenesis factor 1)

Protein function

Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:11439091, PubMed:16314507, PubMed

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09263	PEX-2N	17 → 98	Peroxisome biogenesis factor 1, N-terminal	Domain
PF09262	PEX-1N	104 → 179	Peroxisome biogenesis factor 1, N-terminal	Domain
PF00004	AAA	595 → 733	ATPase family associated with various cellular activities (AAA)	Domain
PF00004	AAA	877 → 1007	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	1029 → 1077	AAA+ lid domain	Domain

Sequence

MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQAIEVVWSHQPAFLSW
VEGRHFSDQGENVAEINRQVGQKLGLSNGGQVFLKPCSHVVSCQQVEVEPLSADDWEILE
LHAVSLEQHLLDQIRIVFPKAIFPVWVDQQTYIFIQIVALIPAASYGRLETDTKLLIQPK
TRRAKENTFSKADAEYKKLHSYGRDQKGMMKELQTKQLQSNTVGITESNENESEIPVDSS
SVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKVVPLDNIFRVCKSQPPSIYNA
SATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLSPKQQQSKTKQNVLSPEKEKQ
MSEPLDQKKIRSDHNEEDEKACVLQVVWNGLEELNNAIKYTKNVEVLHLGKVWIPDDLRK
RLNIEMHAVVRITPVEVTPKIPRSLKLQPRENLPKDISEEDIKTVFYSWLQQSTTTMLPL
VISEEEFIKLETKDGLKEFSLSIVHSWEKEKDKNIFLLSPNLLQKTTIQVLLDPMVKEEN
SEEIDFILPFLKLSSLGGVNSLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGG
KGSGKSTLAKAICKEAFDKLDAHVERVDCKALRGKRLENIQKTLEVAFSEAVWMQPSVVL
LDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFISMGSLVALIATSQSQQSLHP
LLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQHVAKETGGFV
ARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWD
KIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRM
NFISVKGPELLSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRV
VNQLLTQLDGVEGLQGVYVLAATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVL
SDSLPLADDVDLQHVASVTDSFTGADLKALLYNAQLEALHGMLLSSGLQDGSSSSDSDLS
LSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDESKFNMYRLYFGSSYESELGN
GTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQEQRDQLRADI
SIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESF
QNPKRRKNQSGTMFRPGQKVTLA

Sequence length

1283

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		Peroxisomal protein import

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Heimler syndrome	heimler syndrome 1	rs61750418, rs1057517481, rs786204638, rs267608180, rs1554370868, rs751829426, rs1057517469, rs61750407, rs1562846257, rs1057517468, rs61750423, rs1562846113, rs1554372180, rs863225085, rs1057517531 View all (45 more)	N/A
retinal dystrophy	Retinal dystrophy	rs61750415, rs61750423, rs370483961, rs1562846257	N/A
Zellweger Syndrome	Zellweger spectrum disorders, Peroxisome biogenesis disorder 1B, peroxisome biogenesis disorder 1a (zellweger), Peroxisome biogenesis disorder, Peroxisome biogenesis disorder due to PEX1 defect	rs1562846257, rs1057517464, rs1554372180, rs61750428, rs756876301, rs1585244586, rs1057517463, rs1562846113, rs1057517488, rs1057517506, rs1585254187, rs1057517489, rs1057517485, rs886043479, rs1057517468 View all (106 more)	N/A
Leber Congenital Amaurosis	leber congenital amaurosis	rs61750420	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Microcephaly	microcephaly	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amelogenesis Imperfecta	Associate	40466212
Anodontia	Associate	40466212
Arachnodactyly	Associate	40466212
Deafness enamel hypoplasia nail defects	Associate	26387595, 31831025, 40466212
Hearing Loss Sensorineural	Associate	40466212
Nails Malformed	Associate	40466212
Neurologic Manifestations	Associate	9671729
Obesity	Associate	28508493
Peroxisomal Disorders	Associate	20212125
Peroxisome biogenesis disorders	Associate	11389485, 16141001, 16257970, 19105186
Radiculopathy	Associate	40466212
Refsum Disease Infantile	Associate	11389485, 9671729
Retinal Dystrophies	Associate	31831025, 36293220
Retinitis Pigmentosa	Associate	40466212
Zellweger Syndrome	Associate	11389485, 16141001, 19105186, 20212125, 21846392, 26319495, 26387595, 27090541, 31628608, 33545634, 40112482, 9671729

PEX1 (peroxisomal biogenesis factor 1)