Phenylalanine–tRNA ligase beta subunit, also called Phenylalanyl-tRNA synthetase beta chain, is an enzyme that in humans is encoded by the FARSB gene.
This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified.
Medical significance Pathogenic mutations in FARSB are the cause of a disorder called Rajab interstitial lung disease with brain calcifications-1 (RILDBC1), which involves growth defects and lung disease with highly variable severity. In severe cases it can present in infancy and may lead to death.
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