CARS

This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants.

Cysteinyl-TRNA Synthetase

Catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys).

Cysteinyl-tRNA aminoacylation Source: UniProtKB
tRNA aminoacylation for protein translation Source: Reactome

Cytoplasm

Microcephaly, developmental delay, and brittle hair syndrome (MDBH): An autosomal recessive disorder characterized by developmental delay, motor and cognitive disabilities, brittle hair and nails, failure to thrive, and short stature.