DIABLO Chromosome 12
Diablo IAP-binding mitochondrial protein
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What This Gene Does
This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Associated Conditions (4)
Autosomal dominant nonsyndromic hearing loss 64
DIABLO-related disorder
Uterine corpus endometrial carcinoma
Familial cancer of breast
Key Variants
RS116496131
Conflicting classifications of pathogenicity
Health Risk
RS138784666
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64
Health Risk
RS139511903
Conflicting classifications of pathogenicity
DIABLO-related disorder, DIABLO-related disorder
Health Risk
RS199898020
Conflicting classifications of pathogenicity
Health Risk
RS201330335
Conflicting classifications of pathogenicity
Health Risk
RS370571609
Conflicting classifications of pathogenicity
Uterine corpus endometrial carcinoma, Familial cancer of breast, Uterine corpus endometrial carcinoma
Health Risk
RS372776075
Conflicting classifications of pathogenicity
Health Risk
RS376530914
Conflicting classifications of pathogenicity
Health Risk
RS387906893
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64
Health Risk
RS574777883
Conflicting classifications of pathogenicity
Health Risk
RS754247644
Conflicting classifications of pathogenicity
Health Risk
RS759692888
Conflicting classifications of pathogenicity
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116496131 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138784666 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64 |
| RS139511903 | Health Risk | Conflicting classifications of pathogenicity | DIABLO-related disorder, DIABLO-related disorder |
| RS199898020 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201330335 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370571609 | Health Risk | Conflicting classifications of pathogenicity | Uterine corpus endometrial carcinoma, Familial cancer of breast, Uterine corpus endometrial carcinoma |
| RS372776075 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376530914 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS387906893 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64 |
| RS574777883 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754247644 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759692888 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764647908 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1954260410 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64 |
| RS2547123498 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64 |