HARS1
histidyl-tRNA synthetase 1
- Ensembl:
- ENSG00000170445
- UniProt:
- P12081
- OMIM:
- 142810
- Synonyms:
- HARS, HISRS, USH3B
Cilia effects upon perturbation of HARS1
Phenotypes
- Human ciliopathy phenotype:
- spastic ataxia
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
Function
Mutations in the HARS1 gene cause Usher Syndrome (PMID: 22279524).