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FIGURE: 1 / 1
Sequence of this protein is as follows: MARCRGRFVC PVILFKGKHI CRSATLAGWG ELYGRSGYNY FFSGGADDAW ADVEDVTEED CALRSGDTHL FDKVRGYDIK LLRYLSVKYI CDLMVENKKV KFGMNVTSSE KVDKAQRYAD FTLLSIPYPG CEFFKEYKDR DYMAEGLIFN WKQDYVDAPL SIPDFLTHSL NIDWSQYQCW DLVQQTQNYL KLLLSLVNSD DDSGLLVHCI SGWDRTPLFI SLLRLSLWAD GLIHTSLKPT EILYLTVAYD WFLFGHMLVD RLSKGEEIFF FCFNFLKHIT SEEFSALKTQ RRKSLPARDG GFTLEDICML RRKDRGSTTS LGSDFSLVME SSPGATGSFT YEAVELVPAG APTQAAWRKS HSSSPQSVLW NRPQPSEDRL PSQQGLAEAR SSSSSSSNHS DNFFRMGSSP LEVPKPRSVD HPLPGSSLST DYGSWQMVTG CGSIQERAVL HTDSSLPFSF PDELPNSCLL AALSDRETRL QEVRSAFLAA YSSTVGLRAV APSPSGAIGG LLEQFARGVG LRSISSNAL
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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