Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	340665
Gene name	Cytochrome P450 family 26 subfamily C member 1
Gene symbol	CYP26C1
Synonyms (NCBI Gene)	FFDD4
Chromosome	10
Chromosome location	10q23.33
Summary	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is inv

31 Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001972	Function	Retinoic acid binding	IDA	14532297
GO:0001972	Function	Retinoic acid binding	IEA
GO:0004497	Function	Monooxygenase activity	IBA
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0007417	Process	Central nervous system development	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	IDA	14532297
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	IEA
GO:0008401	Function	Retinoic acid 4-hydroxylase activity	TAS
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	ISS
GO:0014032	Process	Neural crest cell development	IEA
GO:0014032	Process	Neural crest cell development	ISS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0020037	Function	Heme binding	IEA
GO:0034653	Process	Retinoic acid catabolic process	IBA
GO:0034653	Process	Retinoic acid catabolic process	IDA	14532297
GO:0034653	Process	Retinoic acid catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048284	Process	Organelle fusion	IEA
GO:0048284	Process	Organelle fusion	ISS
GO:0048387	Process	Negative regulation of retinoic acid receptor signaling pathway	NAS	14532297

MIM	HGNC	e!Ensembl
608428	20577	ENSG00000187553

Q6V0L0

Protein name

Cytochrome P450 26C1 (CYP26C1) (EC 1.14.14.1)

Protein function

A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:14532297). RAs exist as at least four different isomers: all-trans-RA (atRA)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	50 → 498	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in most tissues at very low level. {ECO:0000269|PubMed:14532297}.

Sequence

MFPWGLSCLSVLGAAGTALLCAGLLLSLAQHLWTLRWMLSRDRASTLPLPKGSMGWPFFG
ETLHWLVQGSRFHSSRRERYGTVFKTHLLGRPVIRVSGAENVRTILLGEHRLVRSQWPQS
AHILLGSHTLLGAVGEPHRRRRKVLARVFSRAALERYVPRLQGALRHEVRSWCAAGGPVS
VYDASKALTFRMAARILLGLRLDEAQCATLARTFEQLVENLFSLPLDVPFSGLRKGIRAR
DQLHRHLEGAISEKLHEDKAAEPGDALDLIIHSARELGHEPSMQELKESAVELLFAAFFT
TASASTSLVLLLLQHPAAIAKIREELVAQGLGRACGCAPGAAGGSEGPPPDCGCEPDLSL
AALGRLRYVDCVVKEVLRLLPPVSGGYRTALRTFELDGYQIPKGWSVMYSIRDTHETAAV
YRSPPEGFDPERFGAAREDSRGASSRFHYIPFGGGARSCLGQELAQAVLQLLAVELVRTA
RWELATPAFPAMQTVPIVHPVDGLRLFFHPLTPSVAGNGLCL

Sequence length

522

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Retinol metabolism	Vitamins
Metabolic pathways	RA biosynthesis pathway
	Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Focal facial dermal dysplasia type IV	Likely pathogenic	rs929909433	RCV003990361	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYP26C1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL FACIAL DERMAL DYSPLASIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL FACIAL DERMAL DYSPLASIA 4	—	HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL FACIAL DERMAL DYSPLASIAS	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic nerve hypoplasia	Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	18050373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	30561078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	34681016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29263414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	29706635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal facial dermal dysplasia	Focal Facial Dermal Dysplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL FACIAL DERMAL DYSPLASIA 4	Focal Facial Dermal Dysplasia	ORPHANET_DG	23161670		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal facial dermal dysplasia type IV	Focal Facial Dermal Dysplasia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19703508		★★★★★ ★☆☆☆☆ Found in Text Mining only

CYP26C1 (cytochrome P450 family 26 subfamily C member 1)

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