MPST
mercaptopyruvate sulfurtransferase
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. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2518078342 | 22:37,415,908 | A/G | — | uncertain significance |
| rs141776099 | 22:37,417,759 | G/A | upstream gene variant | — |
| rs560363609 | 22:37,420,267 | C/T | — | uncertain significance |
| rs940318746 | 22:37,420,294 | C/T | — | uncertain significance |
| rs1021850175 | 22:37,420,296 | C/A | — | uncertain significance |
| rs2518089951 | 22:37,420,345 | A/C | — | uncertain significance |
| rs571141762 | 22:37,420,404 | G/C | — | uncertain significance |
| rs778559600 | 22:37,420,411 | G/A | — | uncertain significance |
| rs201058049 | 22:37,420,423 | G/T | — | likely benign |
| rs868061600 | 22:37,420,458 | C/A | — | uncertain significance |
| rs761967107 | 22:37,420,474 | A/T | — | uncertain significance |
| rs184103767 | 22:37,420,504 | C/A | — | uncertain significance |
| rs747813616 | 22:37,420,510 | A/G | — | not provided |
| rs776001621 | 22:37,420,525 | G/C | — | uncertain significance |
| rs2518091636 | 22:37,420,585 | C/T | — | uncertain significance |
| rs866254586 | 22:37,420,593 | G/A | — | uncertain significance |
| rs760998634 | 22:37,420,653 | C/A | — | uncertain significance |
| rs772828688 | 22:37,420,715 | G/C | — | uncertain significance |
| rs1923389480 | 22:37,420,825 | G/A | — | uncertain significance |
| rs5756491 | 22:37,421,702 | A/C | — | — |
| rs141294700 | 22:37,422,858 | A/C | intron variant | — |
| rs3753143 | 22:37,423,142 | T/A | — | — |
| rs1322136298 | 22:37,425,277 | C/A | — | uncertain significance |
| rs768131705 | 22:37,425,286 | G/C | — | uncertain significance |
| rs146497970 | 22:37,425,332 | A/G | — | uncertain significance |
| rs920524346 | 22:37,425,364 | G/A | — | uncertain significance |
| rs757302640 | 22:37,425,476 | A/T | — | uncertain significance |
| rs565373616 | 22:37,425,506 | G/A | — | uncertain significance |
| rs1923751893 | 22:37,425,509 | C/T | — | uncertain significance |
| rs377346580 | 22:37,425,517 | G/A | — | uncertain significance |
| rs557248838 | 22:37,425,636 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.