FARSB

FARSB
Identifiers
Symbol	?
NCBI gene	57335
OMIM	611592
RefSeq	NM_020439
UniProt	Q9Y2W7
Other data
Locus	Chr. 6 p21.1
Search for Structures Swiss-model Domains InterPro

FARSB (also known as FARS2, FARS, or FARS1) is a protein-coding gene located on chromosome 6p21.1. It is involved in the process of protein synthesis and plays a crucial role in the formation of aminoacyl-tRNA synthetases.

Function

FARSB encodes the phenylalanyl-tRNA synthetase beta subunit, which is an essential component of the phenylalanyl-tRNA synthetase complex. This complex is responsible for attaching the amino acid phenylalanine to its corresponding transfer RNA (tRNA) molecule during protein synthesis. The phenylalanyl-tRNA synthetase complex ensures the accurate translation of the genetic code by matching the correct amino acid with its corresponding tRNA molecule.

Clinical Significance

Mutations in the FARSB gene have been associated with a rare genetic disorder known as mitochondrial phenylalanine transfer RNA synthetase deficiency. This condition is characterized by a range of symptoms, including developmental delay, intellectual disability, seizures, and muscle weakness. The mutations in FARSB disrupt the normal function of the phenylalanyl-tRNA synthetase complex, leading to impaired protein synthesis and mitochondrial dysfunction.

External Links

• FARSB gene at NCBI
• FARSB protein at UniProt