MTMR14

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Myotubularin related protein 14
Identifiers
Symbols MTMR14 ; C3orf29
External IDs OMIM611089 MGI1916075 HomoloGene11203 GeneCards: MTMR14 Gene
Orthologs
Species Human Mouse
Entrez 64419 97287
Ensembl ENSG00000163719 ENSMUSG00000030269
UniProt Q8NCE2 Q8VEL2
RefSeq (mRNA) NM_001077525 NM_026849
RefSeq (protein) NP_001070993 NP_081125
Location (UCSC) Chr 3:
9.69 – 9.74 Mb
Chr 6:
113.24 – 113.28 Mb
PubMed search [1] [2]

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[1]

Function[edit]

Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.[2]

Clinical significance[edit]

Mutations in the MTMR14 gene are associated with myotubular myopathy.[2]

References[edit]

  1. ^ Alonso A, Sasin J, Bottini N, Friedberg I, Friedberg I, Osterman A, Godzik A, Hunter T, Dixon J, Mustelin T (June 2004). "Protein tyrosine phosphatases in the human genome". Cell 117 (6): 699–711. doi:10.1016/j.cell.2004.05.018. PMID 15186772. 
  2. ^ a b Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J (November 2006). "A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy". Hum. Mol. Genet. 15 (21): 3098–106. doi:10.1093/hmg/ddl250. PMID 17008356. 

Further reading[edit]