※ Myotubularins family introduction

    Myotubularins (MTM) phosphatases belong to a family of conserved DUSP phosphatase. The myotubularins is consist of 14 members which share a conserved protein tyrosine phosphatase catalytic domain and myotubularins is a large family of phosphoinositide lipid 3-phosphatases with specificity for PtdIns3P and PtdIns (3, 5) P2. Beside PTP domain, myotubularins also contain others motifs which may contribute to protein−protein or protein−lipid interactions. Myotubularins participate in endocytic pathway by regulating substrates PtdIns3P and PtdIns (3,5)P2 which are key regulator of endocytic pathway and also myotubularins may function to suppress concentration of substrate lipids at inappropriate compartments. In addition, some studies show that several MTMs, such as MTMR1, MTMR6, MTMR7, MTMR8 and MTMR12 play a important role in promoting cell survival by regulating PtdIns5P level and PtdIns (3,4,5)P3 specific 5-phosphatase, in turn control PKB/Akt activation. Myotubularins mutation is often accompanied with some disease. MTM1 mutation can lead to condition known as myotubular myopathy. MTMR2 and MTMR13/Sbf2 mutations lead to clinically indistinguishable forms of a neuropathy called Charcot−Marie−Tooth syndrome (types 4B1 and 4B2). MTMR2 and MTMR5/Sbf1 mutations lead to impaired spermatogenesis and azoospermia.

Reference
1. Clague, M.J. and Lorenzo, O. (2005) The myotubularin family of lipid phosphatases. Traffic, 6, 1063-1069. PMID: 16262718

  Reviewed (0)  or Unreviewed (18) 

No.	Status	EKPD ID	Gene ID	Gene Name
1		EPS-TAG-00145	ENSTGUG00000010513
2		EPS-TAG-00135	ENSTGUG00000010514	MTMR3
3		EPS-TAG-00146	ENSTGUG00000016261
4		EPS-TAG-00144	ENSTGUG00000001412
5		EPS-TAG-00155	ENSTGUG00000008521	MTMR14
6		EPS-TAG-00147	ENSTGUG00000016223	SBF1
7		EPS-TAG-00148	ENSTGUG00000016328	MTMR10-2
8		EPS-TAG-00137	ENSTGUG00000007209	MTMR7
9		EPS-TAG-00150	ENSTGUG00000005575	FAN1
10		EPS-TAG-00142	ENSTGUG00000005555	MTMR10-1
11		EPS-TAG-00138	ENSTGUG00000005560	MTMR8
12		EPS-TAG-00136	ENSTGUG00000003314	MTMR4
13		EPS-TAG-00133	ENSTGUG00000012806	MTMR2
14		EPS-TAG-00134	ENSTGUG00000004586	MTMR1
15		EPS-TAG-00140	ENSTGUG00000008025	SBF2
16		EPS-TAG-00139	ENSTGUG00000011465	MTMR6
17		EPS-TAG-00143	ENSTGUG00000001907	MTMR12
18		EPS-TAG-00141	ENSTGUG00000013306	MTMR9