- accession:NM_001287
- 基因别名:CLCN7
- 基因描述:Homo sapiens chloride channel, voltage-sensitive 7 (CLCN7), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:2418
- 翻译后氨基酸长度:805
- TranscriptVariant:This variant (1) represents the longer transcript, and encodes the longer isoform (a).
- 基因简介:The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
- 载体信息:自有图片地址
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列