DISEASES

Disease-gene associations mined from literature

Literature associating NAIP and Brown-Vialetto-Van Laere syndrome

NAIP [ENSP00000428657]

Baculoviral IAP repeat-containing protein 1; Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at 'Asp-315' and decreasing the rate of auto proteolysis at 'Asp-330'. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor- neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy; Baculoviral IAP repeat containing

Synonyms:  NAIP,  E7EQW0,  Q13075,  BIRC1,  E7EQW0p ...

Linkouts:  STRING  Pharos  UniProt  OMIM