HK1 gene

hexokinase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]

From NCBI Gene:

  • Hemolytic anemia due to hexokinase deficiency
  • Neuropathy, hereditary motor and sensory, russe type

From UniProt:

Hexokinase deficiency (HK deficiency): Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. [MIM:235700]

Neuropathy, hereditary motor and sensory, Russe type (HMSNR): An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. [MIM:605285]

Cytogenetic Location: 10q22.1, which is the long (q) arm of chromosome 10 at position 22.1

Molecular Location: base pairs 69,270,000 to 69,401,882 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q22.1, which is the long (q) arm of chromosome 10 at position 22.1
  • hexokinase
  • HK
  • HK1-ta
  • HK1-tb
  • HK1-tc
  • HKD
  • HKI
  • HMSNR
  • HXK1