人 GDAP1 (NM_001040875) cDNA克隆

Accession: NM_001040875
基因名称: GDAP1
基因别名: CMT4; CMT4A; CMTRIA
基因描述: Homo sapiens ganglioside induced differentiation associated protein 1 (GDAP1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 873 (查看编码区序列)
翻译后氨基酸长度: 290 (查看氨基酸序列)
Transcript Variant: This variant (2) contains an alternate in-frame exon and uses an alternate splice site in the 5' coding region, and uses a downstream start codon, compared to variant 1. Isoform b has a shorter N-terminus, compared to isoform a.
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G109102 人 GDAP1 (NM_001040875) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]