Search for a gene
DIABLO - diablo IAP-binding mitochondrial protein
- Synonym(s) : DFNA64, DIABLO-S, FLJ10537, FLJ25049, second mitochondria-derived activator of caspase, SMAC
- Previous symbols and names : diablo, IAP-binding mitochondrial protein
- Type : gene with protein product
- Chromosomal location : 12q24.31
- OMIM: 605219
- HGNC: 21528
- UniProtKB: Q9NR28
- Genatlas: DIABLO
- GenCC: DIABLO
- Ensembl: ENSG00000184047
- IUPHAR-DB: -
- Reactome: Q9NR28
- LOVD: DIABLO
Diseases list
- Disease-causing germline mutation(s) in Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635 
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.