CARS1
Human gene
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Cysteinyl-tRNA synthetase 1 is an enzyme (EC 6.1.1.16) that in humans is encoded by the CARS1 gene. It is an aminoacyl tRNA synthetase that attaches the cysteine amino acid onto its corresponding transfer RNA (tRNA). Cysteinyl tRNA in turn is used by the ribosome to transfer cysteine onto a growing peptide chain during protein synthesis, according to the genetic code.[5]
| CARS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CARS1, cysteinyl-tRNA synthetase 1, CYSRS, cysteinyl-tRNA synthetase, MDBH, CARS, MCDDBH, MGC:11246 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 123859; MGI: 1351477; HomoloGene: 1328; GeneCards: CARS1; OMA:CARS1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Clinical significance
Trichothiodystrophy
Bi-allelic mutations in CARS1 have been identified to cause the non-photosensitive form of trichothiodystrophy (TTD-NPS).[6] This disorder is characterized by neurodevelopmental problems, sulfur-deficient brittle hair and nails, ichthyosis, and growth retardation.[7] In contrast to the photosensitive version of TTD (PS-TTD), which has the characteristics of progressive neuropathy and accelerated aging, NPS-TTD is not linked with premature aging.[8]
According to one study, individuals who present with bi-allelic CARS loss-of-function mutations are unique in presenting with a brittle-hair-and-nail phenotype, which could be related to the high cysteine content in human keratins.[6]