ⓘ MTMR12

                                     

ⓘ MTMR12

Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate PtdIns3P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns3P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

                                     
  • been associated with disease. MTM1 MTMR 1 MTMR 10 MTMR 11 MTMR12 MTMR 2 MTMR 3 MTMR 4 MTMR 6 MTMR 7 MTMR 8 MTMR 9 SBF1 SBF2 Begley MJ, Taylor GS
  • Myotubularin - related protein 2 is a protein that in humans is encoded by the MTMR 2 gene. This gene is a member of the myotubularin family and encodes a putative
  • 6 is a protein that in humans is encoded by the MTMR 6 gene. MTMR 6 has been shown to interact with MTMR 9. GRCh38: Ensembl release 89: ENSG00000139505
  • Myotubularin - related protein 3 is a protein that in humans is encoded by the MTMR 3 gene. This gene encodes a member of the myotubularin dual specificity protein
  • Myotubularin - related protein 1 is a protein that in humans is encoded by the MTMR 1 gene. This gene encodes a member of the myotubularin related family of proteins
  • Hum. Mol. Genet. 12 3 349 56. doi: 10.1093 hmg ddg030. PMID 12554688. Azzedine H, Bolino A, Taïeb T, et al. 2003 Mutations in MTMR 13, a new pseudophosphatase
  • in PH domains. DIP GRAMD1A GRAMD1B GRAMD1C GRAMD2 GRAMD3 MTM1 MTMR 1 MTMR 2 NCOA7 NSMAF OXR1 SBF1 SBF2 TBC1D8 TBC1D8B TBC1D9 TBC1D9B WBP2
  • humans is encoded by the SBF1 gene. SBF1 has been shown to interact with MTMR 2 and SUV39H1. GRCh38: Ensembl release 89: ENSG00000100241 - Ensembl, May
  • turnover involves the myotubularin family of phosphatases. Myotubularin 1 and MTMR 2 dephosphorylate the 3 - position of PtdIns 3, 5 P2 therefore, the product
  • containing the gene for X - linked myotubular myopathy MTM1 and a related gene MTMR 1 Genomics. 54 2 256 66. doi: 10.1006 geno.1998.5560. PMID 9828128. Nishino
  • 1. Concordantly, genetic ablation of the myotubularin - related protein 2 MTMR 2 causes elevation of cellular PtdIns 3, 5 P2 and a decrease of PtdIns5P.