GYG2 Chromosome X

Glycogenin 2
10 variants 10 Health Risk

Upload your DNA to see your personal genotypes for variants in GYG2.

What This Gene Does
This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Glycosyltransferase family 8
Locus Type
gene with protein product
Location
Xp22.33
Ensembl
ENSG00000056998
Associated Conditions (1)
GYG2-related disorder
Key Variants
All Variants (10)
RSID Category Clinical Significance Conditions
RS111544757 Health Risk Conflicting classifications of pathogenicity —
RS143109649 Health Risk Conflicting classifications of pathogenicity GYG2-related disorder, GYG2-related disorder
RS144947653 Health Risk Conflicting classifications of pathogenicity —
RS145000912 Health Risk Conflicting classifications of pathogenicity —
RS145525914 Health Risk Conflicting classifications of pathogenicity —
RS146066080 Health Risk Conflicting classifications of pathogenicity —
RS148296798 Health Risk Conflicting classifications of pathogenicity —
RS760717128 Health Risk Conflicting classifications of pathogenicity —
RS767864277 Health Risk Conflicting classifications of pathogenicity —
RS769501754 Health Risk Conflicting classifications of pathogenicity —
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