Gene: MPST

Alternate names for this Gene: MST|TST2|TUM1

Gene Summary: This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: mercaptopyruvate sulfurtransferase

Type of Gene: protein-coding

rs3753145 in MPST gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs8141597 in MPST gene and Finding of Mean Corpuscular Hemoglobin PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs5750373 in MPST gene and Hemoglobin measurement PMID 19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

rs5750373 in MPST gene and Hemoglobin, CTCAE PMID 19820698 2009 Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

rs8141597 in MPST gene and Mean Corpuscular Volume (result) PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

rs5750373 in MPST gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.