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 |
|---|---|---|---|
| RS138783302 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome, XIAP-related disorder |
| RS143165174 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS144884904 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS150317928 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1602544454 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, See cases, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS199683465 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, XIAP-related disorder, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS200273554 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, Autoinflammatory syndrome, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148090201 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522585616 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522625136 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS368343771 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS377097035 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS749157868 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS769904534 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS770122195 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS774308309 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS775237858 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, Thyroid cancer, nonmedullary |
| RS777303823 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to SH2D1A deficiency, Inborn genetic diseases |
| RS781204574 | Health Risk | Conflicting classifications of pathogenicity | X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148089574 | Health Risk | Likely pathogenic | — |
| RS2148090291 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS2148097889 | Health Risk | Likely pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, Thyroid cancer, nonmedullary |
| RS2148112156 | Health Risk | Likely pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2522590553 | Health Risk | Likely pathogenic | XIAP-related disorder, XIAP-related disorder |
| RS104894764 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS111978474 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1556404455 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1556404534 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1556404575 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1556404673 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1556404684 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, Nonpapillary renal cell carcinoma, Inborn genetic diseases |
| RS1556404697 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1556406033 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1556408009 | Health Risk | Pathogenic | Recurrent infections, Sepsis, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1569477871 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1602544507 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1602546782 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS1602562990 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2053346219 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2053346343 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2053348573 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2053348979 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2053349444 | Health Risk | Pathogenic | — |
| RS2053350325 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148089318 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148090158 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148092759 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148092792 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148096152 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, Nonpapillary renal cell carcinoma, X-linked lymphoproliferative disease due to XIAP deficiency |
| RS2148096182 | Health Risk | Pathogenic | X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency |