Product Data | |
Description | Recombinant protein of human myotubularin related protein 14 (MTMR14), transcript variant 3 |
Species | Human |
Expression Host | HEK293T |
Expression cDNA Clone or AA Sequence | Recombinant protein was produced with TrueORF clone, RC200809. Click on the TrueORF clone link to view cDNA and protein sequences. |
Tag | C-Myc/DDK |
Predicted MW | 59.9 kDa |
Concentration | >50 ug/mL as determined by microplate BCA method |
Purity | > 80% as determined by SDS-PAGE and Coomassie blue staining |
Buffer | 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol |
Bioactivity | Enzyme activity (PMID: 26312549) Enzyme activity (PMID: 28205624) |
Reference Data | |
Locus ID | 64419 |
Refseq Size | 2200 |
Cytogenetics | 3p25.3 |
Refseq ORF | 1614 |
Synonyms | 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] |
Protein Families | Druggable Genome, Phosphatase, Secreted Protein |
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