Gene Symbol | DARS1 |
Entrez Gene ID | 1615 |
Full Name | aspartyl-tRNA synthetase |
Synonyms | HBSL,aspRS |
General protein information |
|
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) |