Myotubularin 1

Myotubularin is a protein that in humans is encoded by the MTM1 gene.[5]

MTM1
Identifiers
AliasesMTM1, CNM, MTMX, XLMTM, Myotubularin 1, myotubularin, CNMX
External IDsOMIM: 300415 MGI: 1099452 HomoloGene: 37279 GeneCards: MTM1
Orthologs
SpeciesHumanMouse
Entrez

4534

17772

Ensembl

ENSG00000171100

ENSMUSG00000031337

UniProt

Q13496

Q9Z2C5

RefSeq (mRNA)

NM_000252
NM_001376906
NM_001376907
NM_001376908

RefSeq (protein)

NP_000243
NP_001363835
NP_001363836
NP_001363837

Location (UCSC)Chr X: 150.57 – 150.67 MbChr X: 70.25 – 70.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.[5]

References

  1. GRCh38: Ensembl release 89: ENSG00000171100 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031337 - Ensembl, 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. "Entrez Gene: MTM1 myotubularin 1".

Further reading

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