HMGCS2 - 3-hydroxy-3-methylglutaryl-CoA synthase 2 Gene

Homo sapiens

Gene ID: 3158 | Gene type: protein coding

About HMGCS2

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,747,996-119,768,932 (from NCBI)

This gene has 4 transcripts (splice variants), 127 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in liver (RPKM 471.6), colon (RPKM 127.8) and 5 other tissues.

Summary

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial Enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

HMGCS2 Products(2)

mRNA	Protein	Name
NM_001166107.1	NP_001159579.1	hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2 precursor
NM_005518.4	NP_005509.1	hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 1 precursor

HMGCS2 Protein Structure

HMG_CoA_synt_N

HMG_CoA_synt_C

0
100
200
300
400
508 a.a.

Protein Preferred Names

Protein Names

hydroxymethylglutaryl-CoA synthase, mitochondrial

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

Related Diseases

Diseases

Alias

3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency

3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	HMGCS2D
Mitochondrial Hmg-Coa Synthase Deficiency	Hmgcs2 Deficiency
Hmg-Coa Synthase-2 Deficiency	Hmg-Coa Synthase Deficiency
Hmg-Coa Synthase 2 Deficiency	Hmgcs Deficiency
Mitochondrial 3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency	3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Alcoholic Ketoacidosis

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-RS06242	HMGCS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	HMGCS2	VGNC	VGNC:73486
Rattus norvegicus	HMGCS2	RGD	RGD:2804
Mus musculus	HMGCS2	MGD	MGI:101939
Bos taurus	HMGCS2	VGNC	VGNC:29881
Felis catus	HMGCS2	VGNC	VGNC:67598
Canis familiaris	HMGCS2	VGNC	VGNC:41715

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