人 PLP1 (NM_199478) cDNA克隆

Accession: NM_199478
基因名称: PLP1
基因别名: PLP; PMD; HLD1; MMPL; SPG2; GPM6C; PLP/DM20
基因描述: Homo sapiens proteolipid protein 1 (PLP1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 729 (查看编码区序列)
翻译后氨基酸长度: 242 (查看氨基酸序列)
Transcript Variant: This variant (2), also known as DM20, uses an alternate in-frame donor splice site at one of the coding exons compared to transcript variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
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G114662 人 PLP1 (NM_199478) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a transmembrane proteolipid protein that is the predominant myelin protein present in the central nervous system. It may play a role in the compaction, stabilization, and maintenance of myelin sheaths, as well as in oligodendrocyte development and axonal survival. Mutations in this gene cause X-linked Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Alternatively spliced transcript variants encoding distinct isoforms or having different 5' UTRs, have been identified for this gene. [provided by RefSeq, Jul 2008]