MTMR14

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MTMR14
Identifiers
Aliases MTMR14, C3orf29, myotubularin related protein 14
External IDs MGI: 1916075 HomoloGene: 11203 GeneCards: MTMR14
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077525
NM_001077526
NM_022485

NM_026849

RefSeq (protein)

NP_001070993
NP_001070994
NP_071930

NP_081125.2
NP_081125

Location (UCSC) Chr 3: 9.65 – 9.7 Mb Chr 6: 113.24 – 113.28 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[3]

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.[4]

Clinical significance[edit]

Mutations in the MTMR14 gene are associated with myotubular myopathy.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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]