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MTMR14 myotubularin related protein 14

Also known as: C3orf29

Summary

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

Associated conditions

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DescriptionTests
Myopathy, centronuclear, 1
MedGen: C1834558OMIM: 160150GeneReviews: Not available
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Genomic context

Location:
3p25.3
Sequence:
Chromosome: 3; NC_000003.12 (9649433..9702394)
Total number of exons:
21

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