Aliases for MTMR1 Gene
External Ids for MTMR1 Gene
Previous GeneCards Identifiers for MTMR1 Gene
This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for MTMR1 Gene
MTMR1 (Myotubularin Related Protein 1) is a Protein Coding gene. Diseases associated with MTMR1 include Myopathy, Centronuclear, X-Linked and Charcot-Marie-Tooth Disease, Type 4B1. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatidylinositol-3-phosphatase activity. An important paralog of this gene is MTMR2.
UniProtKB/Swiss-Prot Summary for MTMR1 Gene
Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:11733541, PubMed:27018598). Activity with phosphatidylinositol (3,5)-bisphosphate is controversial; it has been shown by PubMed:27018598, while PubMed:11733541 find no activity with this substrate.