人 ACTN3 (NM_001258371) cDNA克隆

Accession: NM_001258371
基因名称: ACTN3
基因描述: Homo sapiens actinin, alpha 3 (ACTN3), transcript variant 2, mRNA.
种属: Human
CDS区长度: 2835 (查看编码区序列)
翻译后氨基酸长度: 944 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR and coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
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G124627 人 ACTN3 (NM_001258371) 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]