DIABLO

Chr 12q24.31

diablo IAP-binding mitochondrial protein

Aliases:: SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64
MANE:: ENST00000464942.7

OMIM: 605219 ↗NCBI: 56616 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DIABLO · Q9NR28

v62025-08-01

Predicted Aligned Error matrix for DIABLO — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.6/ 100

Confident

239 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)9%
Low(50–70)18%
Very low(< 50)11%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic hearing loss
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders

Disease associations (Open Targets)

autosomal dominant nonsyndromic hearing loss
0.49
hearing loss disorder
0.19
deafness
0.18
nonsyndromic genetic hearing loss
0.12
Hearing impairment
0.12
neoplasm
0.07
cancer
0.06
melanoma
0.05
lung carcinoma
0.05
lung cancer
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diablo IAP-binding mitochondrial protein

Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/BRUCE by inhibiting its binding to caspases (PubMed:15200957, PubMed:36758104, PubMed:36758105, PubMed:36758106)