CYP27C1 - cytochrome P450 family 27 subfamily C member 1 Gene

Homo sapiens

Gene ID: 339761 | Gene type: protein coding

About CYP27C1

This gene has 3 transcripts (splice variants), 171 orthologues and 3 paralogues. Biased expression in skin (RPKM 1.8), urinary bladder (RPKM 0.5) and 11 other tissues.

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. [provided by RefSeq, Jul 2008]

CYP27C1 Products(3)

mRNA	Protein	Name
NM_001001665.4	NP_001001665.3	cytochrome P450 27C1 isoform 1
NM_001367501.1	NP_001354430.1	cytochrome P450 27C1 isoform 1
NM_001367502.1	NP_001354431.1	cytochrome P450 27C1 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables 11-cis retinal binding	IDA IDA: Inferred from direct assay	27059013	GOA
enables 11-cis-retinal 3,4-desaturase activity	IDA IDA: Inferred from direct assay	27059013	GOA
enables all-trans retinal 3,4-desaturase activity	IDA IDA: Inferred from direct assay	27059013	GOA
enables all-trans retinal binding	IDA IDA: Inferred from direct assay	27059013	GOA
enables all-trans retinoic acid 3,4-desaturase activity	IDA IDA: Inferred from direct assay	27059013	GOA
enables all-trans retinol 3,4-desaturase activity	IDA IDA: Inferred from direct assay	27059013	GOA
enables all-trans-retinol binding	IDA IDA: Inferred from direct assay	27059013	GOA
enables retinoic acid binding	IDA IDA: Inferred from direct assay	27059013	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in retinal metabolic process	IDA IDA: Inferred from direct assay	27059013	GOA
involved in retinoic acid metabolic process	IDA IDA: Inferred from direct assay	27059013	GOA
involved in retinol metabolic process	IDA IDA: Inferred from direct assay	27059013	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP27C1 Protein Structure

p450

0
100
200
300
372 a.a.

Protein Preferred Names

Protein Names

cytochrome P450 27C1

all-trans retinol 3,4-desaturase

Related Diseases

Diseases

Alias

Keratomalacia

Vitamin A Deficiency	Night Blindness
Retinol Deficiency	Xerotic Keratitis
VAD	Vitamin A
Hypovitaminosis A	Bitot Spots
Bitot Spots In The Young Child	Conjunctival Xerosis With Bitot'S Spots
Vitamin A Deficiency With Cornea Xerosis	Vitamin A Deficiency With Cornea Ulceration Or Xerosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03452	CYP27C1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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