Features include: Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, and Photophobia and 4 more.

HK1 encodes hexokinase 1 (917 aa). Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6-phosphate, respectively). Highest expression in Brain Cerebellar Hemisphere (153.8 TPM) and Brain Cerebellum (139.0 TPM).

Retinitis pigmentosa 79 is associated with mutations in the HK1 gene on chromosome 10.

The HK1 protein participates in HK1 H577_C672del, glucokinase and hexokinases, and Defective HK1 causes hexokinase deficiency (HK deficiency) pathways.

HK1 is classified as a druggable target (Enzyme and Kinase categories) with score 7.5.

Genetic testing for HK1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for retinitis pigmentosa 79 has been reported in the published literature.

No clinical trials have been registered for retinitis pigmentosa 79.

3 publications have been identified in PubMed for retinitis pigmentosa 79. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Lieviant JA (2025). [PMID: 40114034](https://pubmed.ncbi.nlm.nih.gov/40114034/). *Eur J Hum Genet*. [Diagnostic / Biomarker]

• Ng BG (2025). [PMID: 40469904](https://pubmed.ncbi.nlm.nih.gov/40469904/). *Genet Med Open*. [Basic Science / Preclinical]

• Luo X (2024). [PMID: 39361057](https://pubmed.ncbi.nlm.nih.gov/39361057/). *Genes Genomics*. [Case Report / Case Series]