DISEASES

Disease-gene associations mined from literature

Literature associating PYDC1 and familial hyperinsulinemic hypoglycemia 3

PYDC1 [ENSP00000304336]

Pyrin domain-containing protein 1; Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro- caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS.

Synonyms:  PYDC1,  PYDC1p,  hPYDC1,  Q8WXC3,  Q8WXC3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM