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The official name of this gene is “hexokinase 1.”
HK1 is the gene's official symbol. The HK1 gene is also known by other names, listed below.
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 five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct 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 stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009]
Hexokinase deficiency (HK deficiency): Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. The disease is caused by mutations affecting the gene represented in this entry.
Hereditary motor and sensory neuropathy, 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. The disease is caused by mutations affecting the gene represented in this entry.
|||235700 (http://omim.org/entry/235700)||HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY|
|||605285 (http://omim.org/entry/605285)||NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE|
|142600 (http://omim.org/entry/142600)||HEXOKINASE 1|
Cytogenetic Location: 10q22
Molecular Location on chromosome 10: base pairs 69,269,983 to 69,401,881
The HK1 gene is located on the long (q) arm of chromosome 10 at position 22.
More precisely, the HK1 gene is located from base pair 69,269,983 to base pair 69,401,881 on chromosome 10.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about HK1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
alternative splicing ; anemia ; atrophy ; autosomal ; autosomal recessive ; deficiency ; distal ; gene ; glucose ; hemolytic anemia ; hereditary ; isoforms ; metabolism ; mitochondria ; motor ; neuropathy ; peripheral ; peripheral neuropathy ; pes cavus ; phosphate ; protein ; proximal ; recessive ; sensory neuropathy ; splicing ; tissue ; transcript
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.