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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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Protein Aliases: CD158 antigen-like family member A; CD158a; Killer cell immunoglobulin-like receptor 2DL1; killer cell immunoglobulin-like receptor two domains short cytoplasmic tail 1; killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1; killer Ig receptor; killer inhibitory receptor 2-2-1; MHC class I NK cell receptor; natural killer cell receptor; Natural killer-associated transcript 1; NKAT-1; p58 killer cell inhibitory receptor KIR-K64; p58 natural killer cell receptor clones CL-42/47.11; p58 NK cell inhibitory receptor NKR-K6; p58 NK receptor CL-42/47.11; p58.1 MHC class-I-specific NK receptor
Gene Aliases: CD158A; KIR-K64; KIR221; KIR2DL1; KIR2DS1; NKAT; NKAT-1; NKAT1; p58.1
UniProt ID: (Human) P43626
Entrez Gene ID: (Human) 3802
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