CYP26C1 - cytochrome P450 family 26 subfamily C member 1 Gene

Also Known as FFDD4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 340665

About CYP26C1

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:93,060,798-93,069,540 (from NCBI)

This gene has 2 transcripts (splice variants), 195 orthologues, 2 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

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]

CYP26C1 Products (1)

mRNA	Protein	Name
NM_183374.3	NP_899230.2	cytochrome P450 26C1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables retinoic acid 4-hydroxylase activity	IDA IDA: Inferred from direct assay	14532297	GOA
enables retinoic acid binding	IDA IDA: Inferred from direct assay	14532297	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in retinoic acid catabolic process	IDA IDA: Inferred from direct assay	14532297	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

CYP26C1 Protein Structure

p450

0
100
200
300
400
522 a.a.

Protein Preferred Names	Protein Names
cytochrome P450 26C1	cytochrome P450, family 26, subfamily C, polypeptide 1

Related Diseases

Diseases	Alias
Focal Facial Dermal Dysplasia 4	Focal Facial Dermal Dysplasia Type Iv FFDD4 Ffdd Type Iv Focal Facial Preauricular Dysplasia Dysplasia, Dermal, Facial, Focal, Type 4
Barber-Say Syndrome	Hypertrichosis, Atrophic Skin, Ectropion, And Macrostomia Barber Say Syndrome BBRSAY Bss Hypertrichosis Atrophic Skin Ectropion Macrostomia Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome
Aplasia Cutis Congenita	Aplasia Cutis Congenita Of Limbs Recessive Congenital Absence Of Skin On The Upper Or Lower Limbs Recessive Aplasia Cutis Congenita Of The Limbs Aplasia Cutis Congenita Nonsyndromic Congenital Defect Of Skull And Scalp Scalp Defect Congenital
Spondylometaphyseal Dysplasia, Corner Fracture Type	SMDCF Spondylometaphyseal Dysplasia, Sutcliffe Type Spondylometaphyseal Dysplasia Corner Fracture Type Spondylometaphyseal Dysplasia, 'Corner Fracture' Type Spondylometaphyseal Dysplasia Sutcliffe Type Sutcliffe Type Of Spondylometaphyseal Dysplasia Spondylometaphyseal Dysplasia - Sutcliffe Type Smd, Corner Fractures Type Smd, Sutcliffe Type Sutcliffe Smd Dysplasia, Spondylometaphyseal, Corner Fracture Type
Carotenemia	Hypercarotinemia
Optic Nerve Hypoplasia, Bilateral	Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Optic Nerve Hypoplasia, Familial Bilateral Familial Bilateral Optic Nerve Hypoplasia Isolated Optic Nerve Hypoplasia/Aplasia Optic Nerve Aplasia, Bilateral Onh BONH Bilateral Optic Nerve Aplasia Hypoplasia, Optic Nerve, Bilateral
Calvarial Doughnut Lesions With Bone Fragility	Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia Calvarial Doughnut Lesions-Bone Fragility Syndrome CDL Doughnut Lesions Of Skull, Familial Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia Familial Doughnut Lesions Of Skull CDLSMD
Leri-Weill Dyschondrosteosis	LWD Dyschondrosteosis Dco Léri-Weill Dyschondrosteosis Leri Weill Dyschondrosteosis Leri-Weill Syndrome Leri-Weil Syndrome Dyschondrosteosis, Leri-Weill

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03449	CYP26C1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CYP26C1	RGD	RGD:1308843
Felis catus	CYP26C1	VGNC	VGNC:103338
Bos taurus	CYP26C1	VGNC	VGNC:110243
Macaca mulatta	CYP26C1	VGNC	VGNC:103633
Mus musculus	CYP26C1	MGD	MGI:2679699
Others	CYP26C1	NCBI