MTMR14

Also known as C3orf29, myotubularin related protein 14

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.

Gene data

MTMR14

Name: myotubularin related protein 14
Type: protein-coding
Position: 9,649,433–9,702,393 (+)
Aliases: C3orf29
Ensembl: ENSG00000163719
RefSeq RNA: NM_001077525.3, NM_001077526.3, NM_001400518.1, NM_001400519.1, NM_001400520.1
RefSeq protein: NP_001070993.1, NP_001070994.1, NP_001387447.1, NP_001387448.1, NP_001387449.1

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].