FARSB
Involvement in disease
Rajab interstitial lung disease with brain calcifications 1
RILDBC1
An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the phenylalanyl-tRNA synthetase beta subunit family. Type 2 subfamily.
Cellular localization
- Cytoplasm
Alternative names
FARSLB, FRSB, HSPC173, FARSB, Phenylalanine--tRNA ligase beta subunit, Phenylalanyl-tRNA synthetase beta subunit, PheRS