Inhibitor of Apoptosis, X-Linked

Alternative Names

  • XIAP
  • Baculoviral IAP Repeat-Containing Protein 4
  • BIRC4
  • Apoptosis Inhibitor 3
  • API3
  • IAP-LIKE PROTEIN
  • ILP
  • Mammalian IAP Homolog A
  • MIHA
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OMIM Number

300079

NCBI Gene ID

331

Uniprot ID

P98170

Length

54,265 bases

No. of Exons

10

No. of isoforms

1

Protein Name

E3 ubiquitin-protein ligase XIAP

Molecular Mass

56685 Da

Amino Acid Count

497

Genomic Location

chrX:123,859,707-123,913,971

Gene Map Locus
Xq25

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_001204401.2:c.1023_1026delLebanonchrX:123891283-123891286Likely PathogenicLymphoproliferative Syndrome, X-Linked, 2NG_007264.1:g.36086_36089del; NM_001204401.2:c.1023_1026del; NP_001158.2:p.Asn341fs
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