Gene: HMGCS2

Alternate names for this Gene: -

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p12

Description of this Gene: 3-hydroxy-3-methylglutaryl-CoA synthase 2

Type of Gene: protein-coding

rs137852636 in HMGCS2 gene and 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency PMID 11479731 2001 Genetic basis of mitochondrial HMG-CoA synthase deficiency.

PMID 11228257 2001 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.

PMID 12647205 2003 Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.

PMID 20346956 2010 Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.

PMID 25511235 2015 Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

PMID 12072887 2002 The diagnosis of mitochondrial HMG-CoA synthase deficiency.

PMID 23751782 2013 New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.

rs9943291 in HMGCS2 gene and Glucose measurement PMID 29523524 2018 Among blacks, an intronic single-nucleotide polymorphism (rs9943291) in the <i>HMGCS2</i> was associated with increase in glucose levels following chlorthalidone treatment (ß=12.5; <i>P</i>=4.17×10<sup>-8</sup>).

rs9943291 in HMGCS2 gene and Hypertensive disease PMID 29523524 2018 Genome Wide Association Study Identifies the HMGCS2 Locus to be Associated With Chlorthalidone Induced Glucose Increase in Hypertensive Patients.

rs9943291 in HMGCS2 gene and elevated blood glucose level PMID 29523524 2018 Genome Wide Association Study Identifies the HMGCS2 Locus to be Associated With Chlorthalidone Induced Glucose Increase in Hypertensive Patients.