HSD3B7 - hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 Gene

Homo sapiens

Also known as CBAS1; PFIC4; SDR11E3

Gene ID: 80270 | Gene type: protein coding

About HSD3B7

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,985,207-30,989,147 (from NCBI)

This gene has 4 transcripts (splice variants), 211 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 10.0), kidney (RPKM 6.4) and 25 other tissues.

Summary

This gene encodes an Enzyme which is involved in the initial stages of the synthesis of bile acids from Cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

HSD3B7 Products(3)

mRNA	Protein	Name
NM_001142777.2	NP_001136249.1	3 beta-hydroxysteroid dehydrogenase type 7 isoform b
NM_001142778.2	NP_001136250.1	3 beta-hydroxysteroid dehydrogenase type 7 isoform b
NM_025193.4	NP_079469.2	3 beta-hydroxysteroid dehydrogenase type 7 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	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

HSD3B7 Protein Structure

3Beta_HSD

0
100
200
300
369 a.a.

Protein Preferred Names

Protein Names

3 beta-hydroxysteroid dehydrogenase type 7

3 beta-hydroxy-delta 5-C27-steroid oxidoreductase

Related Diseases

Diseases

Alias

Bile Acid Synthesis Defect, Congenital, 1

CBAS1	Congenital Bile Acid Synthesis Defect 1
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Congenital Bile Acid Synthesis Defect Type 1
Basd1	Congenital Bile Acid Synthesis Defect, Type 1
3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of	3beta-Hsdh Deficiency
3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency	3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
Neonatal Progressive Intrahepatic Cholestasis	Pfic4
Progressive Familial Intrahepatic Cholestasis Type 4	Bile Acid Synthesis Defect, Congenital, Type 1
Cholestasis, Progressive Familial Intrahepatic 4

Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency	Cba
Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency	Basd
Bile Acid Synthesis Defect, Congenital, 1

Cholestasis

Obstruction Of Bile Duct	Bile Duct Obstruction
Bile Occlusion	Extrahepatic Biliary Obstruction
Extrahepatic Bile Duct Obstruction	Bile Stasis
Biliary Stasis	Obstructive Hyperbilirubinemia
Obstructed Jaundice	Bile Duct Obstructed
Bile Ductal Obstruction	Biliary Duct Obstruction
Obstructed Bile Ductal	Obstructed Biliary Duct
Obstructed Biliary Ductal	Jaundice Regurgitation
Obstructive Jaundice	Cholestatic Jaundice
Cholestatic Jaundice Syndrome

Liver Disease

Liver Failure	Liver Diseases
Abnormality Of The Liver	Liver Dysfunction
Disorder Of Liver	Hepatic Disorder
Hepatic Disease	Disease Of Bilirubin Metabolism
Disorder Of Bilirubin Metabolism	Liver Decompensation
Liver Function Failure	Hepatic Failure Nos
Liver Failure Nos	End Stage Liver Disease
Decompensated Liver Failure	Decompensation Of Liver Function
Hepatic Decompensation	Hepatic Insufficiency
Liver Cell Necrosis With Hepatic Failure	Liver Insufficiency
Decompensated Liver Disease	End Stage Liver Failure
Liver Necrosis With Hepatic Failure

Intrahepatic Cholestasis

Cholestasis, Intrahepatic	Neonatal Intrahepatic Cholestasis
Cholestasis Intrahepatic	Cholestasis Of Pregnancy

Bile Acid Synthesis Defect, Congenital, 2

Cholestasis With Delta(4)-3-Oxosteroid 5-Beta-Reductase Deficiency	CBAS2
Congenital Bile Acid Synthesis Defect 2	Congenital Bile Acid Synthesis Defect Type 2
Congenital Bile Acid Synthesis Defect, Type 2	Basd2
Bile Acid Synthesis Defect, Congenital, Type 2

Bile Acid Synthesis Defect, Congenital, 3

Congenital Bile Acid Synthesis Defect 3	CBAS3
Oxysterol 7-Alpha-Hydroxylase Deficiency	Congenital Bile Acid Synthesis Defect Type 3
Basd3	Bile Acid Synthesis Defect, Congenital, Type 3

Neonatal Jaundice

Neonatal Hyperbilirubinemia	Neonatal Icterus
Jaundice Neonatal	Jaundice, Neonatal
Hyperbilirubinemia, Neonatal

Cholestasis-Lymphedema Syndrome

Aagenaes Syndrome	Chls
Lcs	Cholestasis-Edema Syndrome, Norwegian Type
Lymphedema-Cholestasis Syndrome	Cholestasis Lymphedema Syndrome
Lcs1	Lymphedema Cholestasis Syndrome

Citrullinemia, Type Ii, Adult-Onset

Citrin Deficiency	CTLN2
Citrullinemia Type Ii	Adult-Onset Citrullinemia Type 2
Adult-Onset Type Ii Citrullinemia	Citrullinemia, Adult-Onset Type Ii
Adult-Onset Citrin Deficiency	Adult-Onset Citrullinemia Type Ii
Citrullinemia Type 2	Citrullinemia 2
Citrullinemia, Type Ii

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

Citrullinemia, Classic

Citrullinemia	Classic Citrullinemia
Argininosuccinate Synthetase Deficiency	Ass Deficiency
Citrullinemia Type I	CTLN1
Citrullinuria	Citrullinemia, Type I
Argininosuccinic Acid Synthetase Deficiency	Ctnl1
Citrullinemia 1	Deficiency Of Citrulline-Aspartate Ligase
Cit	Argininosuccinate Synthase Deficiency
Argininosuccinic Acid Synthase Deficiency	Citrullinemia Type 1
Citrullinemia Classical

Cholestasis, Progressive Familial Intrahepatic, 1

PFIC1	Byler Disease
Cholestasis, Progressive Familial Intrahepatic 1	Progressive Familial Intrahepatic Cholestasis 1
Progressive Familial Intrahepatic Cholestasis Type 1	Fic1 Deficiency
Byler'S Disease	Cholestasis, Fatal Intrahepatic
Progressive Familial Intrahepatic Cholestasis	Severe Atp8b1 Deficiency
Fatal Intrahepatic Cholestasis	Cholestasis, Intrahepatic, Familial, Progressive, Type 1
Progressive Intrahepatic Cholestasis	Cholestasis, Progressive Familial Intrahepatic 3

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]

Bilirubin Metabolic Disorder

Hyperbilirubinemia	Hereditary Hyperbilirubinemia
Hyperbilirubinemia, Hereditary	Hyperbilirubinaemia

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06403	HSD3B7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	HSD3B7	VGNC	VGNC:29978
Canis familiaris	HSD3B7	VGNC	VGNC:41811
Rattus norvegicus	HSD3B7	RGD	RGD:628727
Mus musculus	HSD3B7	MGD	MGI:2141879
Felis catus	HSD3B7	VGNC	VGNC:62850
Macaca mulatta	HSD3B7	VGNC	VGNC:99513

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