MPST

Chr 22

mercaptopyruvate sulfurtransferase

Also known as: MST, TST2, TUM1

NCBI Gene: 4357 ENSG00000128309 UniProt: P25325

The protein is a cytoplasmic sulfurtransferase that transfers sulfur ions to cyanide and other thiol compounds, detoxifies cyanide, and produces hydrogen sulfide in the brain, retina, and vascular endothelium for synaptic modulation and neuroprotection. Mutations cause mercaptolactate-cysteine disulfiduria (MCDU), a rare inherited disorder with autosomal recessive inheritance. This gene shows very low constraint against loss-of-function variants, suggesting tolerance to reduced gene dosage.

ResearchSummary from RefSeq, UniProt

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. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…