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Abnova
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FIGURE: 1 / 1
Sequence of this protein is as follows: MSLLVVSMAC VGFFLLQGAW PHEGVHRKPS LLAHPGRLVK SEETVILQCW SDVMFEHFLL HREGMFNDTL RLIGEHHDGV SKANFSISRM TQDLAGTYRC YGSVTHSPYQ VSAPSDPLDI VIIGLYEKPS LSAQLGPTVL AGENVTLSCS SRSSYDMYHL SREGEAHERR LPAGPKVNGT FQADFPLGPA THGGTYRCFG SFHDSPYEWS KSSDPLLVSV TGNPSNSWPS PTEPSSKTER MFHHVGQACL KLPTSSDPTV SACQSNPRHL HILIGTSVVI ILFILLFFLL HRWCSNKKNA AVMDQESAGN RTANSEDSDE QDPQEVTYTQ LNHCVFTQRK ITRPSQRPKT PPTDIIVYTE LPNAESRSKV VSCP
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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