基因名：
COA3
产品别名：
CCDC56； COX25； HSPC009； MC4DN14； MITRAC12； hCOA3； COA3； cytochrome c oxidase assembly factor 3； cytochrome c oxidase assembly factor 3； cytochrome c oxidase assembly factor 3 homolog, mitochondrial； coiled-coil domain-containing protein 56； cytochrome C oxidase assembly factor 3 homolog, mitochondrial； cytochrome c oxidase assembly protein 3 homolog, mitochondrial； mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa； 卷曲螺旋结构域蛋白56；
背景信息：
The coiled-coil domain is a structural motif found in proteins that are involved in a diverse array of biological functions such as the regulation of gene expression, cell division, membrane fusion and drug extrusion and delivery. CCDC56 (coiled-coil domain containing 56) is a 106 amino acid single-pass membrane protein encoded by a gene that maps to human chromosome 17q21. Encoding over 1,200 genes, chromosome 17 comprises over 2.5% of the human genome. Two key tumor suppressor genes are associated with chromosome 17, namely, p53 and BRCA1. Tumor suppressor p53 is necessary for maintenance of cellular genetic integrity by moderating cell fate through DNA repair versus cell death. Malfunction or loss of p53 expression is associated with malignant cell growth and Li-Fraumeni syndrome.
