人 PNPLA6 (NM_006702) cDNA克隆

Accession: NM_006702
基因名称: PNPLA6
基因别名: NTE; sws; SPG39; NTEMND; iPLA2delta
基因描述: Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 2, mRNA.
种属: Human
CDS区长度: 3984 (查看编码区序列)
翻译后氨基酸长度: 1327 (查看氨基酸序列)
Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
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G120862 人 PNPLA6 (NM_006702) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]