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The official name of this gene is “galactokinase 1.”
GALK1 is the gene's official symbol. The GALK1 gene is also known by other names, listed below.
The GALK1 gene provides instructions for making an enzyme called galactokinase 1. This enzyme enables the body to process a simple sugar called galactose, which is present in small amounts in many foods. Galactose is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas.
Galactokinase 1 is responsible for one step in a chemical process that converts galactose into other molecules that can be used by the body. Specifically, this enzyme modifies galactose to create a similar molecule called galactose-1-phosphate. A series of additional steps converts galactose-1-phosphate to another simple sugar called glucose, which is the main energy source for most cells. Galactose-1-phosphate can also be converted to a form that is used to build galactose-containing proteins and fats. These modified proteins and fats play critical roles in chemical signaling, building cellular structures, transporting molecules, and producing energy.
More than 20 mutations in the GALK1 gene have been identified in people with a form of galactosemia called type II or galactokinase deficiency. Most of these mutations change single protein building blocks (amino acids) in galactokinase 1. A few mutations delete a small amount of genetic material from the GALK1 gene, resulting in an unstable or inactive version of this enzyme.
A shortage of functional galactokinase 1 prevents cells from processing galactose obtained from the diet. As a result, galactose and a related sugar called galactitol can build up, particularly in cells that make up the lens of the eye. An accumulation of these substances damages the lens, causing it to become cloudy and leading to blurred vision. Clouding of the lens, which is called a cataract, is a hallmark of galactosemia type II.
Cytogenetic Location: 17q24
Molecular Location on chromosome 17: base pairs 75,757,936 to 75,765,198
The GALK1 gene is located on the long (q) arm of chromosome 17 at position 24.
More precisely, the GALK1 gene is located from base pair 75,757,936 to base pair 75,765,198 on chromosome 17.
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 GALK1 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.
acids ; ATP ; cataract ; deficiency ; D-galactose ; enzyme ; galactose ; gene ; glucose ; glycolipid ; molecule ; phosphate ; protein ; simple sugar
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.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.