GTPBP3 [SEP] chromosome
GTPBP3
tRNA modification GTPase GTPBP3, mitochondrial is an enzyme that in human is encoded by the "GTPBP3" gene on chromosome 19.
The GTPBP3 gene encodes a GTP-binding protein that is evolutionarily conserved from bacteria to mammals and which is localized to the mitochondrion and functions in tRNA modification. At least two major isoforms due to alternative splicing are known In addition, a polymorphism on valine 250 is known and may influence aminoglydoside-induced deafness.
Structure.
The GTPBP3 gene contains 10 exons, and encodes a
consistent with its modification of the severity of phenotypes in 12S rRNA A1555G mutation..
Clinical Significance.
Mutations in GTPBP3 are known to cause hypertrophic cardiomyopathy and mitochondrial defects. Individuals with homozygous or compound heterozygous mutations in GTPBP3 present with combined deficiency of respiratory chain complexes in skeletal muscle, which require mitochondrial translation of mitochondrial-encoded complex subunits to assemble. GTPBP3 mutations cause severe mitochondrial translation defect. The majority of characterized subjects presented with lactic acidosis and hypertrophic cardiomyopathy.
The valine 250 polymorphisms on GTPBP3 is associated with severity