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XLP2

Chr XXLR

X-linked inhibitor of apoptosis

Also known as: API3, BIRC4, IAP-3, ILP1, MIHA, XLP2, hIAP-3, hIAP3

NCBI Gene: 331 OMIM: 300635

This gene encodes an apoptotic suppressor protein that inhibits cell death by binding to tumor necrosis factor receptor-associated factors and blocking caspase-3 and caspase-7 activity. Mutations cause X-linked lymphoproliferative syndrome type 2, characterized by abnormal immune responses to infections and increased susceptibility to lymphomas. The condition follows X-linked recessive inheritance, primarily affecting males.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]

GeneReviews OMIM ResearchGenerating clinical summary…