XIAP Chromosome X
X-linked inhibitor of apoptosis
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What This Gene Does
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]
Gene Info
Gene Group
"Ring finger proteins|Baculoviral IAP repeat containing"
Locus Type
gene with protein product
Location
Xq25
Ensembl
ENSG00000101966
Associated Conditions (12)
X-linked lymphoproliferative disease due to XIAP deficiency
Autoinflammatory syndrome
XIAP-related disorder
Inborn genetic diseases
See cases
Thyroid cancer
nonmedullary
1
X-linked lymphoproliferative disease due to SH2D1A deficiency
Nonpapillary renal cell carcinoma
Recurrent infections
Sepsis
Key Variants
RS138783302
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome, XIAP-related disorder
Health Risk
RS143165174
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS144884904
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS150317928
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS1602544454
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, See cases, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS199683465
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, XIAP-related disorder, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS200273554
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS2148090201
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS2522585616
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS2522625136
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS368343771
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
RS377097035
Conflicting classifications of pathogenicity
X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148112149 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148112215 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522584464 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522585183 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522585460 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522585961 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522596299 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522596304 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522596336 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, XIAP-related disorder, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS387907301 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS761159697 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS773573633 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148089962 | Health Risk | Pathogenic/Likely pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |