MTMR14 myotubularin related protein 14

Gene ID: 64419, updated on 3-Apr-2024
Gene type: protein coding
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

See all available tests in GTR for this gene

Description	Tests
Autosomal dominant centronuclear myopathy MedGen: C4551952OMIM: 160150GeneReviews: Not available	See labs

Genomic context

Location:: 3p25.3

Sequence:: Chromosome: 3; NC_000003.12 (9649505..9702393)

Total number of exons:: 22

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
MTMR14 homepage - Leiden Muscular Dystrophy pages
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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