Gene: ACSS2

Alternate names for this Gene: ACAS2|ACECS|ACS|ACSA|AceCS1|dJ1161H23.1

Gene Summary: This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: acyl-CoA synthetase short chain family member 2

Type of Gene: protein-coding

Gene: GSS

Alternate names for this Gene: GSHS|HEL-S-64p|HEL-S-88n

Gene Summary: Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: glutathione synthetase

Type of Gene: protein-coding

rs17309872 in ACSS2;GSS gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs17309872 in ACSS2;GSS gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.