" /> AARS1 wt Allele - CISMeF





Preferred Label : AARS1 wt Allele;

NCIt synonyms : HDLS2; Alanine tRNA Ligase 1, Cytoplasmic Gene; TTD8; Alanyl-tRNA Synthetase, Cytoplasmic Gene; ALARS; AARS; Alanyl-tRNA Synthetase 1 wt Allele; CMT2N; DEE29; EIEE29;

NCIt definition : Human AARS1 wild-type allele is located in the vicinity of 16q22.1 and is approximately 38 kb in length. This allele, which encodes alanine-tRNA ligase, cytoplasmic protein, is involved in the synthesis of alanyl-tRNA. Mutations in the gene are associated with hereditary diffuse leukoencephalopathy with spheroids 2, axonal Charcot-Marie-Tooth disease type 2N, developmental and epileptic encephalopathy 29 and nonphotosensitive trichothiodystrophy 8.;

GenBank Accession Number : D32050;

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10/05/2024


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