2. Gene
  3. CYP8B1 - cytochrome P450 family 8 subfamily B member 1 Gene

CYP8B1 - cytochrome P450 family 8 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 8 亚家族 B 成员 1

种属: Homo sapiens

同用名: CP8B; CYP12

基因 ID: 1582 | 基因类型: protein coding

关于 CYP8B1

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:42,872,192-42,875,879 (from NCBI)

This gene has 2 transcripts (splice variants), 254 orthologues and 1 paralogue.

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。这种内质网膜蛋白催化 7-alpha-hydroxy-4-cholesten-3-one 转化为 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one。这两种类固醇之间的平衡决定了胆酸和鹅脱氧胆酸的相对量，这两种物质都分泌到胆汁中并影响胆固醇的溶解度。该基因在细胞色素 P450 基因中是独一无二的，因为它是无内含子的。[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 endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two Steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of Cholesterol. This gene is unique among the Cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]

CYP8B1 基因产物(1)

mRNA Protein Name
NM_004391.3 NP_004382.2 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase

CYP8B1 蛋白结构

p450

p450: Cytochrome P450 (34 - 491)

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

7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase

7 alpha-hydroxy-4-cholesten-3-one 12-alpha-hydroxylase

关联疾病

疾病名称 别名
Intrahepatic Cholestasis Of Pregnancy

Recurrent Intrahepatic Cholestasis Of Pregnancy

Gravidic Intrahepatic Cholestasis

Pregnancy-Related Cholestasis

Icp

Pregnancy Related Cholestasis

Cholestasis, Intrahepatic Of Pregnancy

Familial Intrahepatic Cholestasis Of Pregnancy

Familial Recurrent Intrahepatic Cholestasis Of Pregnancy

Ricp

Obstetric Cholestasis
Extrahepatic Cholestasis

Cholestasis, Extrahepatic

Extrahepatic Biliary Stasis

Extrahepatic Obstructive Biliary Disease

Cholestasis Extrahepatic
Cholestasis, Progressive Familial Intrahepatic, 2

PFIC2

Cholestasis, Progressive Familial Intrahepatic 2

Progressive Familial Intrahepatic Cholestasis Type 2

Progressive Familial Intrahepatic Cholestasis 2

Bsep Deficiency

Recurrent Familial Intrahepatic Cholestasis 2

Benign Recurrent Intrahepatic Cholestasis 2

Severe Abcb11 Deficiency

Bric2

Cholestasis, Benign Recurrent Intrahepatic 2

Mild Abcb11 Deficiency

Cholestasis, Intrahepatic, Familial, Progressive, Type 2
Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis

BRIC1

Summerskill Syndrome

Bric

Summerskill-Walshe-Tygstrup Syndrome

Cholestasis, Benign Recurrent Intrahepatic

Benign Recurrent Intrahepatic Cholestasis 1

Benign Recurrent Intrahepatic Cholestasis Type 1

Bric Type 1

Low Gamma-Gt Familial Intrahepatic Cholestasis

Recurrent Familial Intrahepatic Cholestasis

Cholestasis, Benign Recurrent Intrahepatic 1

Mild Atp8b1 Deficiency

Recurrent Familial Intrahepatic Cholestasis 1

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Cholestasis, Intrahepatic, Recurrent, Benign, Type 1

Progressive Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic 3

Bric - [Benign Recurrent Intrahepatic Cholestasis]
Cerebrotendinous Xanthomatosis

CTX

Cerebral Cholesterinosis

Cholestanol Storage Disease

Xanthomatosis, Cerebrotendinous

Sterol 27-Hydroxylase Deficiency

Xanthomatosis Cerebrotendinous

Cerebrotendinous Cholesterinosis

Cholestanolosis

Van Bogaert-Scherer-Epstein Disease
Progressive Familial Intrahepatic Cholestasis

Abcb4-Related Intrahepatic Cholestasis

Cholestasis, Progressive Familial Intrahepatic

Pfic

Byler Disease

Abcb11-Related Intrahepatic Cholestasis

Atp8b1-Related Intrahepatic Cholestasis

Bsep Deficiency

Byler Disease

Byler Syndrome

Fic1 Deficiency

Low Γ-Gt Familial Intrahepatic Cholestasis

Mdr3 Deficiency

Pfic

Cholestasis, Intrahepatic, Familial, Progressive

Pfic - [Progressive Familial Intrahepatic Cholestasis]
Bile Duct Disease

Bile Duct Diseases

Bile Duct Disorder

Disorder Of Bile Duct
Biliary Tract Disease

Biliary Tract Diseases

Biliary Tract Abnormality
Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis
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

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-113259 7α-Hydroxy-4-cholesten-3-one 99.60% 否
HY-113259S 7α-Hydroxy-4-cholesten-3-one-d7 ≥98.0% 否
HY-113259R 7α-Hydroxy-4-cholesten-3-one (Standard) / 否
HY-RS03489 CYP8B1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus CYP8B1 VGNC VGNC:110278
Canis familiaris CYP8B1 VGNC VGNC:50380
Macaca mulatta CYP8B1 VGNC VGNC:103617
Rattus norvegicus CYP8B1 RGD RGD:71016
Felis catus CYP8B1 VGNC VGNC:103331
Mus musculus CYP8B1 MGD MGI:1338044
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