CYP26C1 - cytochrome P450 family 26 subfamily C member 1 Gene

Homo sapiens

Also known as FFDD4

Gene ID: 340665 | Gene type: protein coding

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	Reference	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	Reference	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

Bioactive Molecules (1)

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

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