FARSA
Involvement in disease
Rajab interstitial lung disease with brain calcifications 2
RILDBC2
An autosomal recessive disorder characterized by interstitial lung disease, growth delay, hypotonia, liver disease, and brain abnormalities including diffuse, symmetrical brain calcifications and periventricular cysts.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class-II aminoacyl-tRNA synthetase family. Phe-tRNA synthetase alpha subunit type 2 subfamily.
Cellular localization
- Cytoplasm
Alternative names
FARS, FARSL, FARSLA, FARSA, Phenylalanine--tRNA ligase alpha subunit, CML33, Phenylalanyl-tRNA synthetase alpha subunit, PheRS