1. Gene
  2. CYP26C1 - cytochrome P450 family 26 subfamily C member 1 Gene

CYP26C1 - cytochrome P450 family 26 subfamily C member 1 Gene

中文名称:细胞色素 P450 家族 26 亚家族 C 成员 1

种属: Homo sapiens

同用名: FFDD4

基因 ID: 340665 | 基因类型: protein coding

关于 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.

功能概要

该基因编码细胞色素 P450 酶超家族的成员。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。这种酶参与全反式和 9-顺式视黄酸的分解代谢,因此有助于调节细胞和组织中的视黄酸水平。该基因与染色体 10q23.33 上的相关基因相邻。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_183374.3 NP_899230.2 cytochrome P450 26C1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables retinoic acid 4-hydroxylase activity IDA
IDA: 通过直接分析推断
14532297 GOA
enables retinoic acid binding IDA
IDA: 通过直接分析推断
14532297 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in retinoic acid catabolic process IDA
IDA: 通过直接分析推断
14532297 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

CYP26C1 蛋白结构

p450

p450: Cytochrome P450 (50 - 484)

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

cytochrome P450 26C1

cytochrome P450, family 26, subfamily C, polypeptide 1

关联疾病

疾病名称 别名
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

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

直系同源

种属 基因名 来源 基因 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