人 GDAP1 (NM_018972) cDNA克隆

Accession: NM_018972
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 1, mRNA.
种属: Human
CDS区长度: 1077 (查看编码区序列)
翻译后氨基酸长度: 358 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest variant and encodes the longer isoform (a).
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G109103 人 GDAP1 (NM_018972) 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]