Aliases for MTMR9 Gene
External Ids for MTMR9 Gene
Previous HGNC Symbols for MTMR9 Gene
Previous GeneCards Identifiers for MTMR9 Gene
This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]
GeneCards Summary for MTMR9 Gene
MTMR9 (Myotubularin Related Protein 9) is a Protein Coding gene. Diseases associated with MTMR9 include Generalized Epilepsy With Febrile Seizures Plus and Keratolytic Winter Erythema. GO annotations related to this gene include phosphatase activity and enzyme regulator activity. An important paralog of this gene is MTMR1.
UniProtKB/Swiss-Prot for MTMR9 Gene
Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential).