HK1

Hexokinase-1 is an is_associated_with::enzyme that in humans is encoded by the HK1 is_associated_with::gene.

Function
is_associated_with::Hexokinases is_associated_with::phosphorylate is_associated_with::glucose to produce is_associated_with::glucose-6-phosphate, thus committing glucose to the is_associated_with::glycolytic pathway. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of is_associated_with::mitochondria.

Isoforms
is_associated_with::Alternative splicing of this gene results in five transcript variants which encode different is_associated_with::isoforms, some of which are tissue-specific. Each isoform has a distinct is_associated_with::N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript variant has been described, but due to the presence of several is_associated_with::stop codons, it is not thought to encode a protein.

Clinical significance
is_associated_with::Mutations in this gene are associated with type 4H of is_associated_with::Charcot–Marie–Tooth disease, also known as Russe-type hereditary motor and sensory neuropathy (HMSNR).