CARS1
Function
Catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys).
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
A chromosomal aberration involving CARS is associated with inflammatory myofibroblastic tumors (IMTs). Translocation t(2;11)(p23;p15) with ALK.
Sequence Similarities
Belongs to the class-I aminoacyl-tRNA synthetase family.
Cellular localization
- Cytoplasm
Alternative names
CARS, CARS1, Cysteinyl-tRNA synthetase, CysRS