Specificity
Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.
Tag/Conjugate
Unconjugated
SequenceSimilarities
Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. Information available upon request.
Antigen Description
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]
Function
phosphatidylinositol-3-phosphatase activity; protein tyrosine phosphatase activity;
Synonyms
MTMR14; myotubularin related protein 14; C3orf29; myotubularin-related protein 14; jumpy; NS5ATP4ABP1; egg-derived tyrosine phosphatase homolog; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1;
Citations
Publication ()
Have you cited DAG-P0743 in a publication?
Let us know and earn a reward for your research.
COA
Loading ......
