Details for Gene NLRP12

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 OLI1765; OLI1782; OLI1785; OLI1761; OLI1779; OLI1781; OLI1763; OLI1760; OLI1778; OLI1764; OLI1767; OLI1762; OLI1780; OLI1766
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

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