Gene: HARS1

Alternate names for this Gene: CMT2W|HARS|HRS|USH3B

Gene Summary: Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.3

Description of this Gene: histidyl-tRNA synthetase 1

Type of Gene: protein-coding

Gene: DND1

Alternate names for this Gene: RBMS4

Gene Summary: This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.3

Description of this Gene: DND microRNA-mediated repression inhibitor 1

Type of Gene: protein-coding

rs387906639 in HARS1;DND1 gene and Movement Disorders PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 22930593 2013 A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

PMID 26072516 2015 Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

rs387906639 in HARS1;DND1 gene and Muscle hypotonia PMID 26072516 2015 Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

PMID 22930593 2013 A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

PMID 27353947 2016 Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

rs387906639 in HARS1;DND1 gene and USHER SYNDROME, TYPE IIIB PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.