GENE NAME | NLRP12 |
CHROMOSOME | 19 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000142405 |
UNIPROT ACCESSION NUMBER | P59046 |
GO MOLECULAR FUNCTION | ['cysteine-type endopeptidase activator activity involved in apoptotic process', 'protein binding', 'ATP binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | hsa04621 |
14 combinations linked to NLRP12 | OLI1762; OLI1782; OLI1767; OLI1779; OLI1780; OLI1785; OLI1764; OLI1765; OLI1763; OLI1781; OLI1761; OLI1778; OLI1766; OLI1760 |
5 variants linked to NLRP12 | NLRP12:c.1854C>A, p.Tyr618Ter; NLRP12:c.1206C>G, p.Phe402Leu; NLRP12:c.2764G>C, p.Gly922Arg; NLRP12:c.3131C>T, p.Thr1044Ile; NLRP12:c.1343G>C, p.Gly448Ala |
1 disease linked to NLRP12 | Autoinflammatory syndrome |