人 CAPN3 (NM_173087) cDNA克隆

Accession: NM_173087
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 3, mRNA.
种属: Human
CDS区长度: 2190 (查看编码区序列)
翻译后氨基酸长度: 729 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks three in-frame exons in the coding region, compared to variant 1. It encodes isoform c, which is shorter than isoform a.
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G101134 人 CAPN3 (NM_173087) 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]