GYG1 Chromosome 3
Glycogenin 1
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What This Gene Does
This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Gene Info
Gene Group
Glycosyltransferase family 8
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000163754
Associated Conditions (15)
Glycogen storage disease XV
Polyglucosan body myopathy type 2
Inborn genetic diseases
GYG1-related disorder
Lung cancer
Glycogen storage disease
Acute rhabdomyolysis
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Melanoma
Familial cancer of breast
Sarcoma
Clear cell carcinoma of kidney
Key Variants
RS140175164
Conflicting classifications of pathogenicity
Glycogen storage disease XV, Polyglucosan body myopathy type 2, Inborn genetic diseases
Health Risk
RS142869401
Conflicting classifications of pathogenicity
Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV
Health Risk
RS200947378
Conflicting classifications of pathogenicity
Glycogen storage disease XV, Polyglucosan body myopathy type 2, Inborn genetic diseases
Health Risk
RS202027758
Conflicting classifications of pathogenicity
Glycogen storage disease XV, Polyglucosan body myopathy type 2, GYG1-related disorder
Health Risk
RS759134229
Conflicting classifications of pathogenicity
Glycogen storage disease XV, Polyglucosan body myopathy type 2, Inborn genetic diseases
Health Risk
RS1064795548
Likely pathogenic
Health Risk
RS1173594490
Likely pathogenic
Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV
Health Risk
RS1365446658
Likely pathogenic
Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV
Health Risk
RS1712472176
Likely pathogenic
Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2
Health Risk
RS1712817364
Likely pathogenic
Health Risk
RS747647995
Likely pathogenic
Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV
Health Risk
RS949456055
Likely pathogenic
Polyglucosan body myopathy type 2, Glycogen storage disease XV, Lung cancer
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140175164 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Inborn genetic diseases |
| RS142869401 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS200947378 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Inborn genetic diseases |
| RS202027758 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease XV, Polyglucosan body myopathy type 2, GYG1-related disorder |
| RS759134229 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Inborn genetic diseases |
| RS1064795548 | Health Risk | Likely pathogenic | — |
| RS1173594490 | Health Risk | Likely pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS1365446658 | Health Risk | Likely pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS1712472176 | Health Risk | Likely pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS1712817364 | Health Risk | Likely pathogenic | — |
| RS747647995 | Health Risk | Likely pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS949456055 | Health Risk | Likely pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Lung cancer |
| RS1429663478 | Health Risk | Pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS1559834349 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS1559995920 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS1714533252 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS1714655118 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS2472709427 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS2472710376 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS2472732399 | Health Risk | Pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS727502870 | Health Risk | Pathogenic | Polyglucosan body myopathy type 2, Polyglucosan body myopathy type 2 |
| RS727502871 | Health Risk | Pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS745345009 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS747627650 | Health Risk | Pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS753901064 | Health Risk | Pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS768834390 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS774778687 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS777291159 | Health Risk | Pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS938753170 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS985019447 | Health Risk | Pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |
| RS143137713 | Health Risk | Pathogenic/Likely pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Glycogen storage disease |
| RS370652040 | Health Risk | Pathogenic/Likely pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Clear cell carcinoma of kidney |
| RS727502869 | Health Risk | Pathogenic/Likely pathogenic | Polyglucosan body myopathy type 2, Glycogen storage disease XV, Polyglucosan body myopathy type 2 |
| RS760872938 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease XV, Polyglucosan body myopathy type 2, Glycogen storage disease XV |