CARS1

Chr 11

cysteinyl-tRNA synthetase 1

Also known as: CARS, CYSRS, MCDDBH, MDBH, MGC:11246

NCBI Gene: 833 ENSG00000110619 UniProt: P49589

The protein catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys) as a class 1 aminoacyl-tRNA synthetase essential for protein synthesis. Mutations cause microcephaly, developmental delay, and brittle hair syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variation (LOEUF 0.494), reflecting its essential cellular role.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMicrocephaly, developmental delay, and brittle hair syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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