人 MTMR14 (NM_022485) cDNA克隆

Accession: NM_022485
基因名称: MTMR14
基因别名: C3orf29
基因描述: Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 3, mRNA.
种属: Human
CDS区长度: 1617 (查看编码区序列)
翻译后氨基酸长度: 538 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks two alternate in-frame segments in the 3' coding region, compared to variant 2. The resulting protein (isoform 3) has a shorter C-terminus when it is compared to isoform 2.
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G101761 人 MTMR14 (NM_022485) 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]