人 CHCHD7 抗体对
01AB03048
Coiled-coil-helix-coiled-coil-helix domain containing 7 (CHCHD7) is a small, ubiquitously expressed mitochondrial protein belonging to the CHCH domain family. It adopts a characteristic coiled-coil-helix-coiled-coil-helix fold and is predicted to participate in the assembly of the mitochondrial respiratory chain complexes, specifically those related to cytochrome c oxidase functions. Clinically, CHCHD7 is involved in recurrent chromosomal rearrangements in salivary gland pleomorphic adenomas, where it frequently forms a fusion gene with PLAG1. It is also genetically associated with pleomorphic adenoma carcinoma and myoepithelial carcinoma. These associations implicate CHCHD7 in the pathogenesis of salivary gland tumorigenesis, likely through the disruption of its normal mitochondrial or regulatory functions.
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技术参数
- 靶点基因名
- CHCHD7
- 蛋白别名
- coiled-coil-helix-coiled-coil-helix domain containing 7; CHCHD7
- UniProt
- Q9BUK0
- 物种
- Human
产品详情
- 靶点名称
- CHCHD7
- 蛋白名称
- coiled-coil-helix-coiled-coil-helix domain containing 7
- 蛋白别名
- Coiled-coil-helix-coiled-coil-helix domain-containing protein 7
- 靶点基因名
- CHCHD7
- UniProt
- Q9BUK0
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
Coiled-coil-helix-coiled-coil-helix domain containing 7 (CHCHD7) is a small, ubiquitously expressed mitochondrial protein belonging to the CHCH domain family. It adopts a characteristic coiled-coil-helix-coiled-coil-helix fold and is predicted to participate in the assembly of the mitochondrial respiratory chain complexes, specifically those related to cytochrome c oxidase functions. Clinically, CHCHD7 is involved in recurrent chromosomal rearrangements in salivary gland pleomorphic adenomas, where it frequently forms a fusion gene with PLAG1. It is also genetically associated with pleomorphic adenoma carcinoma and myoepithelial carcinoma. These associations implicate CHCHD7 in the pathogenesis of salivary gland tumorigenesis, likely through the disruption of its normal mitochondrial or regulatory functions.