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Immunogen sequence: LSIPYPGCEF FKEYKDRDYM AEGLIFNWKQ DYVDAPLSIP DFLTHSLNID WSQYQCWDLV QQTQNYLKLL LSLVNSDDDS GLLVHCISGW DRTPLFISLL RLSLWADGLI HTSLKPTEIL YLTVAYDWFL FGHMLVDRLS KGEEIFFFCF NFLKHITSEE FSALKTQRRK SLPARDGGFT LEDICMLRRK DRGSTTSLGS DFSLVMESSP GATGSFTYEA VELVPAGAPT QAAWRKSHSS SPQSVLWNRP QPSEDRLPSQ QGLAEARSSS SSSSNHSDNF FRMGSSPLEV PKPRLAALSD RETRLQEVRS AFLAAYSSTV GLRAVAPSPS GAIGGLLEQF ARGVGLRSIS SNAL
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; mJumpy; Myotubularin-related protein 14; NS5ATP4ABP1
Gene Aliases: 1110061O04Rik; AW553738; C3orf29; C76151; MTMR14; RGD1304842
UniProt ID: (Human) Q8NCE2, (Mouse) Q8VEL2
Entrez Gene ID: (Human) 64419, (Mouse) 97287, (Rat) 312634
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