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Article

Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.

American journal of human genetics - 15 Jul 2011

Cheng Jing, Zhu Yuhua, He Sudan, Lu Yanping, Chen Jing, Han Bing, Petrillo Marco, Wrzeszczynski Kazimierz O, Yang Shiming, Dai Pu, Zhai Suoqiang, Han Dongyi, Zhang Michael Q, Li Wei, Liu Xuezhong, Li Huawei, Chen Zheng-Yi, Yuan Huijun

Abstract excerpt

SMAC/DIABLO is a mitochondrial proapoptotic protein that is released from mitochondria during apoptosis and counters the inhibitory activities of inhibitor of apoptosis proteins, IAPs. By linkage analysis and candidate screening, we identified a heterozygous SMAC/DIABLO mutation, c.377C>T (p.Ser126Leu, refers to p.Ser71Leu in the mature protein) in a six-generation Chinese kindred characterized by dominant...

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Identifiers

PMID: 21722859
DOI: 10.1016/j.ajhg.2011.05.027
PMCID: PMC3135809

Genes

DIABLO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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