人 ATP2A1 (NM_173201) cDNA克隆

Accession: NM_173201
基因名称: ATP2A1
基因别名: ATP2A; SERCA1
基因描述: Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.
种属: Human
CDS区长度: 3006 (查看编码区序列)
翻译后氨基酸长度: 1001 (查看氨基酸序列)
Transcript Variant: This variant (b) lacks an exon in the 3' coding region resulting in a frameshift and use of a downstream termination codon, compared to variant a. Isoform b has a longer and distinct C-terminus, compared to isoform a. Isoform b is also referred to as the neonatal isoform.
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G169867 人 ATP2A1 (NM_173201) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]