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Immunogen sequence: VEFHVHGGP AVVSGVLQAL GSVPGLRPAE AGEFTRRAFA NGKLNLTEVE GLADLIHAET EAQRRQALRQ LDGELGHLCR GWAETLTKAL AHVEAYIDFG EDDNLEEGVL EQADIEVRAL QVALGAHLRD ARRGQRLRSG VHVVVTGPPN AGKSSLVNLL SRKPVSIVSP EPGTTRDVLE TPVDLAGFPV LLSDTAGLRE GVGPVEQEGV RRARERLEQA DLILAMLDAS DLASPSSCNF LATVVASVGA QSPSDSSQHL LLVLNKSDLL SPEGPGPGPD LPPHLLLSCL TGEGLDGLLE ALRKELAAVC GDPSTDPPLL TRARHQHHLQ GCLDALGHYK QSKDLALAAE ALRVARGHLT RLTGGGGTEE ILDIIFQDFC VGK (111-492 aa encoded by BC019261)
This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described.
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Protein Aliases: GTP binding protein 3 (mitochondrial); GTP-binding protein 3; Mitochondrial GTP-binding protein 1; tRNA modification GTPase GTPBP3, mitochondrial
Gene Aliases: 2410009F13Rik; AI607903; COXPD23; GTPBG3; GTPBP3; MSS1; MTGP1; THDF1
UniProt ID: (Human) Q969Y2, (Mouse) Q923K4, (Rat) Q5PQQ1
Entrez Gene ID: (Human) 84705, (Mouse) 70359, (Rat) 290633
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