人 MTMR14 (NM_001077525) cDNA克隆

Accession: NM_001077525
基因名称: MTMR14
基因别名: C3orf29
基因描述: Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1953 (查看编码区序列)
翻译后氨基酸长度: 650 (查看氨基酸序列)
Transcript Variant: This variant (2) represents the longest transcript and it encodes the longest protein (isoform 2).
产品编号 产品名称 载体 规格 价格
G101759 人 MTMR14 (NM_001077525) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]