人 GTPBP3 (NM_032620) cDNA克隆

Accession: NM_032620
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 V, mRNA.
种属: Human
CDS区长度: 1479 (查看编码区序列)
翻译后氨基酸长度: 492 (查看氨基酸序列)
Transcript Variant: This variant (V) lacks an in-frame segment in the CDS, compared to variant IV. The resulting protein (isoform V) is shorter than isoform IV. This variant is also referred to as isoform I in PubMed IDs 12370316 and 18852288.
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G102155 人 GTPBP3 (NM_032620) 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]