人 CAPN3 (NM_173089) cDNA克隆

Accession: NM_173089
基因名称: CAPN3
基因别名: p94; CANP3; LGMD2; nCL-1; CANPL3; LGMD2A
基因描述: Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 5, mRNA.
种属: Human
CDS区长度: 471 (查看编码区序列)
翻译后氨基酸长度: 156 (查看氨基酸序列)
Transcript Variant: This variant (5) differs in the 5' UTR and uses a downstream start codon, compared to variant 1. It encodes isoform e, which has a shorter N-terminus compared to isoform a.
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G101130 人 CAPN3 (NM_173089) cDNA克隆 pDONR223 2ug质粒 点击询价

Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]