人 ACTN3 (NM_001104) cDNA克隆

Accession: NM_001104
基因名称: ACTN3
基因描述: Homo sapiens actinin, alpha 3 (ACTN3), transcript variant 1, mRNA.
种属: Human
CDS区长度: 2706 (查看编码区序列)
翻译后氨基酸长度: 901 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the protein-coding allele and encodes isoform 1. This allele is not found in the reference genome.
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G124626 人 ACTN3 (NM_001104) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants. The reference genome contains the non-coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2012]