CYP8B1 - cytochrome P450 family 8 subfamily B member 1 Gene

Homo sapiens

Also known as CP8B; CYP12

Gene ID: 1582 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

CYP8B1 Protein Structure

p450

0
100
200
300
400
501 a.a.

Protein Preferred Names

Protein Names

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

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

Related Diseases

Diseases

Alias

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

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Purity	Rare Diseases
HY-113259	7α-Hydroxy-4-cholesten-3-one	98.04%	Unkown
HY-113259S	7α-Hydroxy-4-cholesten-3-one-d7	≥98.0%	Unkown
HY-113259R	7α-Hydroxy-4-cholesten-3-one (Standard)	/	Unkown
HY-RS03489	CYP8B1 Human Pre-designed siRNA Set A	/	Unkown

Orthologs Information

Species	Symbol	Source	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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