HARS1 encodes histidyl-tRNA synthetase 1 (509 aa). Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP). Plays a role in axon guidance Highest expression in Brain Cerebellar Hemisphere (82.0 TPM) and Brain Cerebellum (73.9 TPM).

Autosomal dominant Charcot-Marie-Tooth disease type 2W is associated with mutations in the HARS1 gene on chromosome 5.

HARS1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for HARS1 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for autosomal dominant Charcot-Marie-Tooth disease type 2W.

3 publications have been identified in PubMed for autosomal dominant Charcot-Marie-Tooth disease type 2W. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Samuels TN (2025). [PMID: 39702998](https://pubmed.ncbi.nlm.nih.gov/39702998/). *FEBS J*. [Review / Meta-Analysis]

• Wilhelm SDP (2024). [PMID: 39352000](https://pubmed.ncbi.nlm.nih.gov/39352000/). *IUBMB Life*. [Case Report / Case Series]

• Wilhelm SDP (2024). [PMID: 39530218](https://pubmed.ncbi.nlm.nih.gov/39530218/). *Nucleic Acids Res*. [Basic Science / Preclinical]