MTMR3
Description
The MTMR3 (myotubularin related protein 3) is a protein-coding gene located on chromosome 22.
MTMR3 is a member of the myotubularin dual specificity protein phosphatase gene family. It shares structural similarity with myotubularin but contains additional domains, including a FYVE domain and an N-terminal PH-GRAM domain. MTMR3 can self-associate and form heteromers with other myotubularin-related proteins. The PH-GRAM domain enables binding to phosphoinositide lipids. In vitro, MTMR3 can hydrolyze phosphatidylinositol(3)-phosphate (PI3P) and phosphatidylinositol(3,5)-biphosphate (PI(3,5)P2). While MTMR3 is often observed with a perinuclear, potentially membrane-bound, distribution in cells, it can also be found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been identified for this gene.
MTMR3 is a phosphatase that targets lipids with a phosphoinositol headgroup. It specifically hydrolyzes phosphatidylinositol 3-phosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Additionally, it may dephosphorylate proteins phosphorylated on serine (Ser), threonine (Thr), and tyrosine (Tyr) residues.
MTMR3 is also known as FYVE-DSP1, ZFYVE10.
Associated Diseases
- Parkinson disease
- lysosomal storage disease
- Alzheimer disease
- multiple sclerosis
- type 2 diabetes mellitus
- cataract
