Myotubularin 1

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Myotubularin 1
Identifiers
Symbols MTM1 ; CNM; MTMX; XLMTM
External IDs OMIM300415 MGI1099452 HomoloGene37279 GeneCards: MTM1 Gene
EC number 3.1.3.64
Orthologs
Species Human Mouse
Entrez 4534 17772
Ensembl ENSG00000171100 ENSMUSG00000031337
UniProt Q13496 Q9Z2C5
RefSeq (mRNA) NM_000252 NM_001164190
RefSeq (protein) NP_000243 NP_001157662
Location (UCSC) Chr HG1459_PATCH:
149.65 – 149.76 Mb
Chr X:
71.21 – 71.32 Mb
PubMed search [1] [2]

Myotubularin is a protein that in humans is encoded by the MTM1 gene.[1]

This gene is a member of a gene family that encodes tyrosine phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.[1]

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