CYP26B1 - cytochrome P450 family 26 subfamily B member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56603

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-14531	Talarozole	Inhibitor	99.75%	Phase 2

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-182728	CD564	Inhibitor	/	Unkown
HY-RS03448	CYP26B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CYP26B1	NCBI