MTMR12
Description
The MTMR12 (myotubularin related protein 12) is a protein-coding gene located on chromosome 5.
MTMR12 is a protein that, in humans, is encoded by the MTMR12 gene. It functions as an adaptor subunit in a complex with an active phosphatidylinositol 3-phosphate (PtdIns(3)P) 3-phosphatase, which is involved in regulating various cellular processes. The MTMR12 gene has multiple transcript variants that encode different isoforms.
MTMR12 acts as an adapter for the myotubularin-related phosphatases, regulating the stability and possibly the intracellular location of phosphatase MTM1. This stabilization of MTM1 protein levels is crucial for skeletal muscle maintenance but not for myogenesis.
MTMR12 is also known as 3-PAP, PIP3AP.
Associated Diseases
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- Alzheimer disease
- X-linked retinal dysplasia
- severe early-childhood-onset retinal dystrophy
- X-linked retinoschisis
- coloboma of optic nerve
- X-linked myotubular myopathy
- centronuclear myopathy
- cancer
