Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: LSIPYPGCE FFKEYKDRDY MAEGLIFNWK QDYVDAPLSI PDFLTHSLNI DWSQYQCWDL VQQTQNYLKL LLSLVNSDDD SGLLVHCISG WDRTPLFISL LRLSLWADGL IHTSLKPTEI LYLTVAYDWF LFGHMLVDRL SKGEEIFFFC FNFLKHITSE EFSALKTQRR KSLPARDGGF TLEDICMLRR KDRGSTTSLG SDFSLVMESS PGATGSFTYE AVELVPAGAP TQAAWRKSHS SSPQSVLWNR PQPSEDRLPS QQGLAEARSS SSSSSNHSDN FFRMGSSPLE VPKPRLAALS DRETRLQEVR SAFLAAYSST VGLRAVAPSP SGAIGGLLEQ FARGVGLRSI SSNAL (245-598 aa encoded by BC050626)
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.
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Protein Aliases: egg-derived tyrosine phosphatase homolog; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1; hJumpy; jumpy; Myotubularin-related protein 14; NS5ATP4ABP1
Gene Aliases: C3orf29; MTMR14
UniProt ID: (Human) Q8NCE2
Entrez Gene ID: (Human) 64419
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