DIABLO wt Allele

Preferred Label : DIABLO wt Allele;

NCIt synonyms : DFNA64; DIABLO-S; SMAC; Diablo IAP-Binding Mitochondrial Protein wt Allele; SMAC3; hCG_1782202; FLJ25049; FLJ10537; Diablo, IAP-Binding Mitochondrial Protein Gene;

NCIt definition : Human DIABLO wild-type allele is located in the vicinity of 12q24.31 and is approximately 20 kb in length. This allele, which encodes diablo IAP-binding mitochondrial protein, is involved in the promotion of caspase-mediated apoptosis. Mutation of the gene is associated with deafness autosomal dominant type 64.;

GenBank Accession Number : AF262240;

Details

Origin ID

C105652;

UMLS CUI

C3540545;

OMIM relation
- Direct iap-binding protein with low pi [OMIM gene]
See also inter- (CISMeF)
- Deafness, autosomal dominant 64 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.31 [NCIt concept]
gene_is_element_in_pathway
- Caspase Cascade in Apoptosis [NCIt concept]
- Mitochondria in Apoptotic Signaling Pathway [NCIt concept]
- Nerve Growth Factor Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Caspase Activation [NCIt concept]
- Caspase-Dependent Apoptosis [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]
- Stress Response Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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