QARS1

Chr 3

glutaminyl-tRNA synthetase 1

Also known as: GLNRS, MSCCA, PRO2195, QARS

NCBI Gene: 5859 ENSG00000172053 UniProt: P47897

Glutaminyl-tRNA synthetase catalyzes the attachment of glutamine to its cognate tRNA molecules, playing a critical role in brain development. Biallelic mutations cause autosomal recessive microcephaly with progressive seizures and cerebral and cerebellar atrophy. The gene shows minimal constraint against loss-of-function variants (very low pLI), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, OMIM, UniProt

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly, progressive, with seizures and cerebral and cerebellar atrophy

Clinical highlights

Gene-disease validity (ClinGen)

diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome · ARDefinitivesufficient evidence for diagnostic panels

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.81

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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