HSD17B12 - hydroxysteroid 17-beta dehydrogenase 12 Gene

Homo sapiens

Also known as KAR; SDR12C1

Gene ID: 51144 | Gene type: protein coding

About HSD17B12

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:43,556,721-43,856,615 (from NCBI)

This gene has 14 transcripts (splice variants), 281 orthologues and 25 paralogues. Ubiquitous expression in brain (RPKM 34.2), kidney (RPKM 34.0) and 25 other tissues.

Summary

This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This Enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]

HSD17B12 Products(1)

mRNA	Protein	Name
NM_016142.3	NP_057226.1	very-long-chain 3-oxoacyl-CoA reductase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20937905	GOA
enables very-long-chain 3-oxoacyl-CoA reductase activity	EXP EXP: Inferred from Experiment	12482854	GOA
enables very-long-chain 3-oxoacyl-CoA reductase activity	IDA IDA: Inferred from direct assay	12482854	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fatty acid elongation, saturated fatty acid	IDA IDA: Inferred from direct assay	25003994	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of fatty acid elongase complex	IDA IDA: Inferred from direct assay	25003994	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

HSD17B12 Protein Structure

adh_short

0
100
200
312 a.a.

Protein Preferred Names

Protein Names

very-long-chain 3-oxoacyl-CoA reductase

17-beta-HSD 12

Related Diseases

Diseases

Alias

Cervical Neuroblastoma

Qualitative Platelet Defect

Qualitative Platelet Defects	Qualitative Platelet Deficiency
Thrombocytopathy	Platelet Defect
Platelet Disorder	Thrombopathy
Platelet Granule Defect	Thrombocytasthenia
Thromboasthenia	Dystrophic Thrombocytopathy
Haemorrhagic Thrombasthenia	Granulopenic Thrombocytopathy

Extracranial Neuroblastoma

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Polycystic Kidney Disease

Polycystic Kidney Diseases	Pkd
Polycystic Renal Disease	Kidney Disease, Polycystic
Polycystic Kidney, Autosomal Dominant

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-RS06392	HSD17B12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	HSD17B12	VGNC	VGNC:73416
Bos taurus	HSD17B12	VGNC	VGNC:54883
Felis catus	HSD17B12	VGNC	VGNC:62847
Rattus norvegicus	HSD17B12	RGD	RGD:708367
Mus musculus	HSD17B12	MGD	MGI:1926967
Canis familiaris	HSD17B12	VGNC	VGNC:41802

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