Ontology highlight
ABSTRACT:
SUBMITTER: Cheng J
PROVIDER: S-EPMC3135809 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Cheng Jing J Zhu Yuhua Y He Sudan S Lu Yanping Y Chen Jing J Han Bing B Petrillo Marco M Wrzeszczynski Kazimierz O KO Yang Shiming S Dai Pu P Zhai Suoqiang S Han Dongyi D Zhang Michael Q MQ Li Wei W Liu Xuezhong X Li Huawei H Chen Zheng-Yi ZY Yuan Huijun H
American journal of human genetics 20110630 1
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 progressive nonsyndromic hearing loss, designated as DFNA64. SMAC/DIABLO is highly express ...[more]