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MTMR14

From Wikipedia, the free encyclopedia
MTMR14
Identifiers
AliasesMTMR14, C3orf29, myotubularin related protein 14
External IDsOMIM: 611089; MGI: 1916075; HomoloGene: 11203; GeneCards: MTMR14; OMA:MTMR14 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001077525
NM_001077526
NM_022485

NM_026849
NM_001362182
NM_001362183
NM_001362185

RefSeq (protein)

NP_001070993
NP_001070994
NP_071930

NP_081125
NP_001349111
NP_001349112
NP_001349114

Location (UCSC)Chr 3: 9.65 – 9.7 MbChr 6: 113.21 – 113.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.[5]

Function

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Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(3)P and PtdIns(3,5)P2.[6]

Clinical significance

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Mutations in the MTMR14 gene are associated with myotubular myopathy.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163719Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030269Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 18072568.
  6. ^ 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

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