Myotubularin 1

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MTM1
Identifiers
Aliases MTM1, CNM, MTMX, XLMTM, Myotubularin 1
External IDs MGI: 1099452 HomoloGene: 37279 GeneCards: MTM1
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000252

NM_001164190
NM_001164191
NM_001164192
NM_001164193
NM_019926

RefSeq (protein)

NP_000243

NP_001157662
NP_001157663
NP_001157664
NP_001157665
NP_064310

Location (UCSC) Chr X: 150.57 – 150.67 Mb Chr X: 71.21 – 71.32 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Myotubularin is a protein that in humans is encoded by the MTM1 gene.[3]

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.[3]

References[edit]

Further reading[edit]

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