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The official name of this gene is “glycogen synthase 2 (liver).”
GYS2 is the gene's official symbol. The GYS2 gene is also known by other names, listed below.
The protein encoded by this gene, liver glycogen synthase, catalyzes the rate-limiting step in the synthesis of glycogen - the transfer of a glucose molecule from UDP-glucose to a terminal branch of the glycogen molecule. Mutations in this gene cause glycogen storage disease type 0 (GSD-0) - a rare type of early childhood fasting hypoglycemia with decreased liver glycogen content. [provided by RefSeq, Dec 2009]
Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan.
The disease is caused by mutations affecting the gene represented in this entry.
|||240600 (http://omim.org/entry/240600)||GLYCOGEN STORAGE DISEASE 0, LIVER|
|138571 (http://omim.org/entry/138571)||GLYCOGEN SYNTHASE 2|
Cytogenetic Location: 12p12.2
Molecular Location on chromosome 12: base pairs 21,684,460 to 21,783,721
The GYS2 gene is located on the short (p) arm of chromosome 12 at position 12.2.
More precisely, the GYS2 gene is located from base pair 21,684,460 to base pair 21,783,721 on chromosome 12.
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 GYS2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
deficiency ; fasting ; gene ; glucose ; glycogen ; hypoglycemia ; molecule ; protein ; synthesis
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.