MARS Antikörper

MARS2 (methionyl-tRNA synthetase 2, mitochondrial), also known as MetRS or MtMetRS, is a 593 amino acid mitochondrial matrix protein that belongs to the class-I aminoacyl-tRNA synthetase family. MARS2 functions at an optimal pH of 7.8 to 8.2 and contains HIGH and KMSKS motifs, both of which are signature sequences found in all class I synthetases. The gene encoding MARS2 maps to human chromosome 2q33.1. Consisting of of 237 million bases and encoding over 1,400 genes, chromosome 2 is the second largest human chromosome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alström syndrome is due to mutations in the ALMS1 gene.