2. Gene
  3. CYP26B1 - cytochrome P450 family 26 subfamily B member 1 Gene

CYP26B1 - cytochrome P450 family 26 subfamily B member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞色素 P450 家族 26 亚家族 B 成员 1

种属: Homo sapiens

同用名: RHFCA; CYP26A2; P450RAI2; P450RAI-2

基因 ID: 56603 | 基因类型: protein coding

关于 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.

功能概要

该基因编码细胞色素 P450 超家族的一个成员。细胞色素 P450 蛋白是单加氧酶，可催化许多涉及药物代谢和胆固醇、类固醇和其他脂质合成的反应。编码的蛋白质定位于内质网，并通过将全反式维甲酸特异性失活为羟基化形式，作为全反式维甲酸水平的关键调节剂发挥作用。该基因的突变与放射性肱骨融合和其他骨骼和颅面异常有关，编码蛋白水平的升高与动脉粥样硬化病变有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
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: 通过直接分析推断
26937021 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
enables retinoic acid 4-hydroxylase activity IDA
IDA: 通过直接分析推断
10823918 GOA
enables retinoic acid binding IDA
IDA: 通过直接分析推断
10823918 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bone morphogenesis IMP
IMP: 通过突变表型推断
22019272 GOA
involved in retinoic acid catabolic process IDA
IDA: 通过直接分析推断
10823918 GOA
involved in retinoic acid metabolic process IDA
IDA: 通过直接分析推断
22020119 GOA
involved in xenobiotic metabolic process IDA
IDA: 通过直接分析推断
26937021 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
22899867 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CYP26B1 蛋白结构

p450

p450: Cytochrome P450 (73 - 466)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 512 a.a.
蛋白主名 其他名称

cytochrome P450 26B1

cytochrome P450 family 26 subfamily A member 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-14531 Talarozole Inhibitor 99.61% Phase 2
Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03448 CYP26B1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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