Myotubularin-related protein 13 (IPR030567)
Short name: MTMR13
Overlapping homologous superfamilies
- Myotubularin family (IPR030564)
- Myotubularin-related protein 13 (IPR030567)
Myotubularin-related protein 13 (MTMR13), also known as SET-binding factor 2 (SBF2), belongs to the myotubularin family. It may function as a guanine nucleotide exchange factor (GEF) that activates Rab28 (a Rab GTPase) [PMID: 20937701]. Loss of MTMR13 leads to the Charcot-Marie-Tooth 4B (CMT4B) peripheral neuropathy, which is a recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system [PMID: 15998640, PMID: 18349142].
The family of myotubularin (MTM) phosphoinositide phosphatases includes catalytically inactive members, or pseudophosphatases, which contain inactivating substitutions in the phosphatase domain. MTMR13 is one of them. MTMR13 exists in cells independently as a homodimer, as well as in complex with a homodimer of MTMR2. Association with MTMR2 dramatically increases MTMR2 enzymatic activity [PMID: 16399794].
- PTHR10807:SF4 (PTHR10807:SF4)