MTM1

GENE INFORMATION

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Gene name

MTM1

Synonyms

Description

Myotubularin 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]

Chromosome

X

Cytoband

q28

Chromosome location (bp)

150568619 - 150673322

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171100 (version 78.38)

Entrez gene

4534

UniProt

Q13496 (UniProt - Evidence at protein level)

neXtProt

NX_Q13496

Antibodypedia

MTM1 antibodies
 

PROTEIN VIEW

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MTM1-002
 
MTM1-005
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MTM1-002 ENSP00000359423
ENST00000370396
Q13496
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Show » Show » 603 69.9 No 0
MTM1-005 ENSP00000400699
ENST00000424519
C9J2A2
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Show » 103 11.9 No 0