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Gene Symbol |
GYS2 |
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Aliases |
- |
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Entrez Gene ID |
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Gene Name |
Glycogen synthase 2 |
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Chromosomal Location |
12p12.1 |
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HGNC ID |
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Summary |
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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Glycogen [starch] synthase, liver, glycogen synthase 2 (liver) |
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Function |
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Transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan |
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UniProt |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF05693 |
Glycogen_syn |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000358421 |
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P14060 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Nutritional and Metabolic Diseases |
| Glycogen Storage Disease |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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Obesity and Gestational Diabetes mellitus |
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Rotterdam criteria and NICHD |
Related
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774 PCOS patients and 967 controls; Korean |
Our study provides a preliminary framework upon diverse genetic effects underlying PCOS in Korean women. A newly identified GYS2 gene as a predisposing factor of PCOS might expand understanding of the biological pathways in metabolic and endocrine regulation. |
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