人 ATP13A2 (NM_001141973) cDNA克隆

Accession: NM_001141973
基因名称: ATP13A2
基因别名: CLN12; KRPPD; PARK9; HSA9947; RP1-37C10.4
基因描述: Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3528 (查看编码区序列)
翻译后氨基酸长度: 1175 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 2.
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G118331 人 ATP13A2 (NM_001141973) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]