| Gene Symbol | DARS1 |
| Entrez Gene ID | 1615 |
| Full Name | aspartyl-tRNA synthetase |
| Synonyms | HBSL,aspRS |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]. |
| Disorder MIM: | |
| Disorder Html: | Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3) |
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