HK1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HK1 wild-type allele is located in the vicinity of 10q22.1 and is approximately 132 kb in length. This allele, which encodes hexokinase-1 protein, plays a role in glycolysis and innate immunity. Mutation of the gene is associated with retinitis pigmentosa 79, hexokinase deficiency, neurodevelopmental disorder with visual defects and brain anomalies, and Russe type hereditary motor and sensory neuropathy.

**Synonyms:** - HK - HK1-ta - HK1-tb - HK1-tc - HKD - HKI - HMSNR - HXK1 - Hexokinase 1 wt Allele - Hexokinase Gene - NEDVIBA - NMSR - RP79