FARSB

Chr 2AR

phenylalanyl-tRNA synthetase subunit beta

Also known as: FARSLB, FRSB, HSPC173, NEDBLLA, PheHB, PheRS, RILDBC, RILDBC1

NCBI Gene: 10056 ENSG00000116120 UniProt: Q9NSD9 OMIM: 609690

The FARSB gene encodes the regulatory beta subunit of phenylalanyl-tRNA synthetase, which attaches phenylalanine to its corresponding tRNA during protein synthesis. Mutations cause Rajab interstitial lung disease with brain calcifications 1, an autosomal recessive disorder affecting the lungs and central nervous system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.558).

OMIM ResearchSummary from RefSeq, OMIM

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Rajab interstitial lung disease with brain calcifications 1MIM #613658

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

Mechanism· predicted