CYP26B1 - cytochrome P450 family 26 subfamily B member 1 Gene

Homo sapiens

Also known as RHFCA; CYP26A2; P450RAI2; P450RAI-2

Gene ID: 56603 | Gene type: protein coding

About CYP26B1

Cytogenetic location: 2p13.2 Genomic coordinates (GRCh38): 2:72,129,238-72,147,862 (from NCBI)

This gene has 5 transcripts (splice variants), 195 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 9.5), skin (RPKM 9.2) and 21 other tissues.

Summary

This gene encodes a member of the Cytochrome P450 superfamily. The Cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of Cholesterol, Steroids and Other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and Other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

CYP26B1 Products(2)

mRNA	Protein	Name
NM_001277742.2	NP_001264671.1	cytochrome P450 26B1 isoform 2
NM_019885.4	NP_063938.1	cytochrome P450 26B1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IDA IDA: Inferred from direct assay	26937021	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables retinoic acid 4-hydroxylase activity	IDA IDA: Inferred from direct assay	10823918	GOA
enables retinoic acid binding	IDA IDA: Inferred from direct assay	10823918	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in bone morphogenesis	IMP IMP: Inferred from mutant phenotype	22019272	GOA
involved in retinoic acid catabolic process	IDA IDA: Inferred from direct assay	10823918	GOA
involved in retinoic acid metabolic process	IDA IDA: Inferred from direct assay	22020119	GOA
involved in xenobiotic metabolic process	IDA IDA: Inferred from direct assay	26937021	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22899867	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

CYP26B1 Protein Structure

p450

0
100
200
300
400
512 a.a.

Protein Preferred Names

Protein Names

cytochrome P450 26B1

cytochrome P450 family 26 subfamily A member 1

CYP26B1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CYP26B1	Q9NR63	JPH3	Homo sapiens	Q8WXH2	Y2H Array	32814053
Intra	CYP26B1	Q9NR63	JPH3	Homo sapiens	Q8WXH2	Y2H Pooling	32814053
Intra	CYP26B1	Q9NR63	JPH3	Homo sapiens	Q8WXH2	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies

Lethal Occipital Encephalocele-Skeletal Dysplasia Syndrome	RHFCA
Craniosynostosis With Radiohumeral Fusions And Other Skeletal And Craniofacial Anomalies

Occipital Encephalocele

Hypervitaminosis A

Hypervitaminosis A, Susceptibility To

Hyperalimentation Of Vitamin A

Ovarian Dysgenesis 2

Premature Ovarian Failure 4	ODG2
Ovarian Dysgenesis, Hypergonadotropic, X-Linked	Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis
Ovarian Failure Hypergonadotropic Due To Ovarian Dysgenesis	X-Linked Hypergonadotropic Ovarian Dysgenesis
POF4	Dysgenesis, Ovarian, Type 2

Neural Tube Defects

Spina Bifida	Neural Tube Defect
NTD	Neural Tube Defects, Susceptibility To
Spinal Dysraphism	Spina Bifida, Susceptibility To
Rachischisis	Cleft Spine
Open Spine	Hydrocele Spinalis
Neural Tube Defect Nos	Sb - [Spina Bifida]
Spinal Hernia Nos	Spinal Fissure Nos

Antley-Bixler Syndrome

Trapezoidocephaly Synostosis Syndrome	Trapezoidocephaly-Synostosis Syndrome
Antley Bixler Syndrome	Multisynostotic Osteodysgenesis With Long Bone Fractures
Osteodysgenesis, Multisynostotic With Fractures	Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome Phenotype

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

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

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

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-14531	Talarozole	Inhibitor	99.61%	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70514	Human CYP26B1,Low-Reductase		/	Unkown
HY-RS03448	CYP26B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CYP26B1	MGD	MGI:2176159
Felis catus	CYP26B1	VGNC	VGNC:80079
Macaca mulatta	CYP26B1	VGNC	VGNC:103623
Canis familiaris	CYP26B1	VGNC	VGNC:50344
Rattus norvegicus	CYP26B1	RGD	RGD:631379

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