蛋白质/抗原/多肽 >> 重组蛋白
重组帕金森病相关蛋白ATP13A2
半岛bd体育手机客户端 介绍
基因名:
ATP13A2 半岛bd体育手机客户端 别名: CLN12; HSA9947; KRPPD; PARK9; SPG78; ATP13A2; ATPase cation transporting 13A2; ATPase cation transporting 13A2; polyamine-transporting ATPase 13A2; ATPase 13A2; ATPase type 13A2; cation-transporting ATPase 13A2; probable cation-transporting ATPase 13A2; 帕金森病相关蛋白ATP13A2; 背景信息:
ATP13A2 is a 1,180 amino acid multi-pass membrane protein that belongs to the P5 subfamily of ATPases which play an important role in the transportation of inorganic cations. Expressed as multiple alternative spliced isoforms, ATP13A2 functions to catalyze the conversion of ATP to ADP and a free phosphate, thereby participating in the active transport of ions across cellular membranes. Defects in the gene encoding ATP13A2 are the cause of Kufor-Rakeb syndrome (KRS), a rare hereditary type of Parkinson’s disease that exhibits juvenile onset and is characterized by neurodegeneration and dementia. The ATP13A2 gene maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome.
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