MTMR14
Sign in to saveAlso known as C3orf29, myotubularin related protein 14
Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.
Gene data
MTMR14- Name
- myotubularin related protein 14
- Type
- protein-coding
- Position
- 9,649,433–9,702,393 (+)
- Aliases
- C3orf29
- Ensembl
- ENSG00000163719
- RefSeq RNA
- NM_001077525.3, NM_001077526.3, NM_001400518.1, NM_001400519.1, NM_001400520.1
- RefSeq protein
- NP_001070993.1, NP_001070994.1, NP_001387447.1, NP_001387448.1, NP_001387449.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 11203
- exact match
- identifiers.org/ncbigene/64419
- genomic end
- 9744077
- genomic start
- 9691117
- cytogenetic location
- 3p25.3
Sources (4)
via Wikidata · CC0
~1 min read
Article
4 sectionsContents
- Function
- Clinical significance
- References
- Further reading
Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.
== Function ==