AARS1 alanyl-tRNA synthetase 1

Gene ID: 16, updated on 10-Oct-2024
Gene type: protein coding
Also known as: AARS; TTD8; CMT2N; DEE29; HDLS2; EIEE29

Summary

The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Charcot-Marie-Tooth disease axonal type 2N MedGen: C2750090OMIM: 613287GeneReviews: Not available	See labs
Developmental and epileptic encephalopathy, 29 MedGen: C4225361OMIM: 616339GeneReviews: Not available	See labs
Leukoencephalopathy, hereditary diffuse, with spheroids 2 MedGen: C5562044OMIM: 619661GeneReviews: Not available	See labs
Trichothiodystrophy 8, nonphotosensitive MedGen: C5562057OMIM: 619691GeneReviews: Not available	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2018-01-11) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2018-01-11) ClinGen Genome Curation Page

Genomic context

Location:: 16q22.1

Sequence:: Chromosome: 16; NC_000016.10 (70252298..70289506, complement)

Total number of exons:: 21

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for AARS1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

AARS @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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