人 ATP2C1 (NM_001199180) cDNA克隆

Accession: NM_001199180
基因名称: ATP2C1
基因别名: HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A
基因描述: Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.
种属: Human
CDS区长度: 2922 (查看编码区序列)
翻译后氨基酸长度: 973 (查看氨基酸序列)
Transcript Variant: This variant (6) encodes the longest isoform (2a).
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G104478 人 ATP2C1 (NM_001199180) cDNA克隆 pDONR223 2ug质粒 点击询价

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]