GTPBP3 抗体
(GTP Binding Protein 3 (Mitochondrial) (GTPBP3))
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].
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Latest Publications for our GTPBP3 抗体
: "Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. ..." in: American journal of human genetics, Vol. 95, Issue 6, pp. 708-20, (2014) (PubMed).
: "Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study." in: European journal of human genetics : EJHG, Vol. 17, Issue 8, pp. 1056-62, (2009) (PubMed).
: "Characterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification." in: Molecular and cellular biology, Vol. 28, Issue 24, pp. 7514-31, (2008) (PubMed).
: "[Dietary factor and cancer risk--evidence from epidemiological studies]." in: Gan to kagaku ryoho. Cancer & chemotherapy, Vol. 31, Issue 6, pp. 847-52, (2004) (PubMed).
: "Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3." in: Molecular genetics and metabolism, Vol. 83, Issue 3, pp. 199-206, (2004) (PubMed).
: "Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification." in: Biochemical and biophysical research communications, Vol. 312, Issue 3, pp. 747-54, (2003) (PubMed).
: "A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation." in: Molecular and cellular biology, Vol. 22, Issue 21, pp. 7701-11, (2002) (PubMed).
: "Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study." in: European journal of human genetics : EJHG, Vol. 17, Issue 8, pp. 1056-62, (2009) (PubMed).
: "Characterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification." in: Molecular and cellular biology, Vol. 28, Issue 24, pp. 7514-31, (2008) (PubMed).
: "[Dietary factor and cancer risk--evidence from epidemiological studies]." in: Gan to kagaku ryoho. Cancer & chemotherapy, Vol. 31, Issue 6, pp. 847-52, (2004) (PubMed).
: "Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3." in: Molecular genetics and metabolism, Vol. 83, Issue 3, pp. 199-206, (2004) (PubMed).
: "Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification." in: Biochemical and biophysical research communications, Vol. 312, Issue 3, pp. 747-54, (2003) (PubMed).
: "A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation." in: Molecular and cellular biology, Vol. 22, Issue 21, pp. 7701-11, (2002) (PubMed).
Aliases for GTPBP3 抗体
GTP binding protein 3, mitochondrial (GTPBP3) 抗体GTP binding protein 3 (Gtpbp3) 抗体
GTP binding protein 3, mitochondrial (gtpbp3) 抗体
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