CYP26C1 cytochrome P450 family 26 subfamily C member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYP26C1provided by HGNC
Official Full Name: cytochrome P450 family 26 subfamily C member 1provided by HGNC
Primary source: HGNC:HGNC:20577
See related: Ensembl:ENSG00000187553 MIM:608428; AllianceGenome:HGNC:20577
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FFDD4
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 involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 10q23.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (93060798..93069540)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (93940696..93949426)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (94820555..94829297)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of CYP26C1 Promoter Hypomethylation with Small Vessel Occlusion in Korean Subjects.
Title: Association of CYP26C1 Promoter Hypomethylation with Small Vessel Occlusion in Korean Subjects.
This review highlights the current knowledge of structure-function of CYP26 enzymes and focuses on their role in human retinoid metabolism in different tissues.
Title: Biochemical and physiological importance of the CYP26 retinoic acid hydroxylases.
CYP26C1 missense variants and one splicing variant were identified in six independent individuals with idiopathic short stature.
Title: Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.
findings suggest that CYP26C1 is a 4-oxo-atRA hydroxylase and may be important in regulating the concentrations of this active retinoid in human tissues
Title: CYP26C1 Is a Hydroxylase of Multiple Active Retinoids and Interacts with Cellular Retinoic Acid Binding Proteins.
Together, these findings describe CYP26C1 as the first genetic modifier for SHOX deficiency.
Title: Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
Elevated expression of CYP26C1 in primary breast carcinomas
Title: Elevated expression of the retinoic acid-metabolizing enzyme CYP26C1 in primary breast carcinomas.
Focal facial dermal dysplasia, type IV results from the loss of function mutations in CYP26C1.
Title: Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
CYP26A1 and CYP26C1 play a pivotal role in the pathogenesis of nonsyndromic bilateral and unilateral optic nerve aplasia.
Title: Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Positive association between ALDH1A2 and schizophrenia in the Chinese population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Focal facial dermal dysplasia type IV MedGen: C3554246 OMIM: 614974 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

CYP26C1_4664 (e-PCR)
- UniSTS:462851

D1S1423 (e-PCR)
- UniSTS:149619

NoName (e-PCR)
- UniSTS:482724

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aromatase activity	IEA Inferred from Electronic Annotation more info
enables heme binding	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables retinoic acid 4-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables retinoic acid 4-hydroxylase activity	TAS Traceable Author Statement more info
enables retinoic acid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in central nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of retinoic acid receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in neural crest cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in organelle fusion	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinoic acid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cytochrome P450 26C1

Names: cytochrome P450, family 26, subfamily C, polypeptide 1

NP_899230.2

EC 1.14.14.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.