FARSB gene

phenylalanyl-tRNA synthetase subunit beta

The information on this page was automatically extracted from online scientific databases.

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

From NCBI Gene:

  • Rajab syndrome

From UniProt:

Rajab interstitial lung disease with brain calcifications (RILDBC): 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. [MIM:613658]

Cytogenetic Location: 2q36.1, which is the long (q) arm of chromosome 2 at position 36.1

Molecular Location: base pairs 222,566,899 to 222,656,355 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q36.1, which is the long (q) arm of chromosome 2 at position 36.1
  • FARSLB
  • FRSB
  • HSPC173
  • NEDBLLA
  • PheHB
  • PheRS
  • RILDBC