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Genetics Home Reference: your guide to understanding genetic conditions
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HK1

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

What is the official name of the HK1 gene?

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.

What is the normal function of the HK1 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3098):

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]

How are changes in the HK1 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/P19367) provides the following information about the HK1 gene's known or predicted involvement in human disease.

Hexokinase deficiency (HK deficiency): Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature.[1] 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.[2] The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3098) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the HK1 gene.
  • Charcot-Marie-Tooth disease, type 4G[2]
  • Hemolytic anemia due to hexokinase deficiency[1]
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]
[2]

Where is the HK1 gene located?

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.

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.

Where can I find additional information about HK1?

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.

What other names do people use for the HK1 gene or gene products?

  • HK1-ta
  • HK1-tb
  • HK1-tc
  • HKD
  • HKI
  • HMSNR
  • HXK1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding HK1?

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.

 
Published: September 15, 2014