Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55670
Gene name Gene Name - the full gene name approved by the HGNC.
Peroxisomal biogenesis factor 26
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PEX26
Synonyms (NCBI Gene) Gene synonyms aliases
PBD7A, PBD7B, PEX26M1T, Pex26pM1T
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into pero
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28940308 G>A Pathogenic Coding sequence variant, missense variant
rs61752129 C>-,CC Pathogenic Frameshift variant, coding sequence variant
rs61752132 T>C Uncertain-significance, pathogenic Coding sequence variant, missense variant
rs61752133 ->T Pathogenic Frameshift variant, coding sequence variant
rs62641228 C>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050399 hsa-miR-23a-3p CLASH 23622248
MIRT622837 hsa-miR-5193 HITS-CLIP 19536157
MIRT633711 hsa-miR-660-3p HITS-CLIP 19536157
MIRT622836 hsa-miR-4324 HITS-CLIP 19536157
MIRT622835 hsa-miR-544b HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15713480, 16189514, 16257970, 16763195, 16854980, 20531392, 32296183, 32814053
GO:0005777 Component Peroxisome IBA
GO:0005777 Component Peroxisome IDA 15858711, 16257970, 16763195
GO:0005777 Component Peroxisome IEA
GO:0005778 Component Peroxisomal membrane IDA 12717447
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608666 22965 ENSG00000215193
Protein
UniProt ID Q7Z412
Protein name Peroxisome assembly protein 26 (Peroxin-26)
Protein function Peroxisomal docking factor that anchors PEX1 and PEX6 to peroxisome membranes (PubMed:12717447, PubMed:12851857, PubMed:16257970, PubMed:16763195, PubMed:16854980, PubMed:21362118). PEX26 is therefore required for the formation of the PEX1-PEX6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07163 Pex26 1 302 Pex26 protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:12851857). Highly expressed in kidney, liver, brain and skeletal muscles (PubMed:12851857). Expressed at intermediate level in pancreas, placenta and heart (PubMed:12851857). Weakly expressed in lung (PubMed:12
Sequence
Sequence length 305
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Peroxisome   Peroxisomal protein import
Class I peroxisomal membrane protein import
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Zellweger Syndrome Peroxisome biogenesis disorder, peroxisome biogenesis disorder 7a (zellweger) rs267608190, rs62641229, rs1556586479, rs62641228, rs28940308, rs61752129, rs74315506, rs61752133 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Deafness enamel hypoplasia nail defects Associate 31831025
Hearing Loss Associate 30446579
Lung Neoplasms Associate 34074205
Melanoma Associate 34074205
Neoplasms Associate 34074205
Nonsyndromic Deafness Associate 30446579
Peroxisome biogenesis disorders Associate 15858711, 16257970, 19105186
Refsum Disease Infantile Associate 16257970
Zellweger Syndrome Associate 16257970, 19105186, 26319495, 30446579