人 GTPBP3 (NM_001128855) cDNA克隆

Accession: NM_001128855
基因名称: GTPBP3
基因别名: MSS1; MTGP1; THDF1; GTPBG3
基因描述: Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), transcript variant III, mRNA.
种属: Human
CDS区长度: 1416 (查看编码区序列)
翻译后氨基酸长度: 471 (查看氨基酸序列)
Transcript Variant: This variant (III) lacks an in-frame segment and uses an alternate, in-frame splice site in the CDS, compared to variant IV. The resulting protein (isoform III) is shorter than isoform IV.
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G102154 人 GTPBP3 (NM_001128855) cDNA克隆 pDONR223 2ug质粒 点击询价

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. [provided by RefSeq, Sep 2010]