PMAIP1

Chr 18

phorbol-12-myristate-13-acetate-induced protein 1

Also known as: APR, NOXA

NCBI Gene: 5366 ENSG00000141682 UniProt: Q13794 OMIM: 604959

The PMAIP1 protein promotes apoptosis by inhibiting anti-apoptotic BCL-2 family members and facilitating mitochondrial membrane changes that lead to caspase activation and cell death. Mutations in PMAIP1 cause neurodevelopmental disorders with intellectual disability, seizures, and brain malformations, following an autosomal dominant inheritance pattern. The gene shows relatively low constraint to loss-of-function variants, suggesting that complete protein loss may be tolerated in some contexts.

OMIM ResearchSummary from RefSeq, UniProt

This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.85

LOEUF

Multiple*

Mechanism· predicted