MTMR14 myotubularin related protein 14
Gene ID: 64419, updated on 20-Oct-2024Gene type: protein coding
Also known as: C3orf29
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- Go to complete Gene record for MTMR14
- Go to Variation Viewer for MTMR14 variants
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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Description | Tests |
---|---|
Autosomal dominant centronuclear myopathy | See labs |
Genomic context
- Location:
- 3p25.3
- Sequence:
- Chromosome: 3; NC_000003.12 (9649505..9702393)
- Total number of exons:
- 22
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for MTMR14 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MTMR14 homepage - Leiden Muscular Dystrophy pages
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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