GBE1 Chromosome 3
1,4-alpha-glucan branching enzyme 1
Upload your DNA to see your personal genotypes for variants in GBE1.
What This Gene Does
The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008]
Associated Conditions (31)
Glycogen storage disease
type IV
Glycogen storage disease IV
classic hepatic
Adult polyglucosan body disease
Glycogen storage disease due to glycogen branching enzyme deficiency
childhood neuromuscular form
GBE1-related disorder
Inborn genetic diseases
See cases
Dementia
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
Arthrogryposis syndrome
nonprogressive hepatic
Adult polyglucosan body neuropathy
fatal perinatal neuromuscular form
Cutis laxa
autosomal recessive
type 1B
+11 more conditions
Key Variants
RS1319283898
Conflicting classifications of pathogenicity
Glycogen storage disease, type IV, Glycogen storage disease
Health Risk
RS1367364158
Conflicting classifications of pathogenicity
Glycogen storage disease, type IV, Glycogen storage disease IV
Health Risk
RS137852887
Conflicting classifications of pathogenicity
Glycogen storage disease IV, classic hepatic, Glycogen storage disease
Health Risk
RS137852888
Conflicting classifications of pathogenicity
Glycogen storage disease IV, classic hepatic, Glycogen storage disease due to glycogen branching enzyme deficiency
Health Risk
RS140571802
Conflicting classifications of pathogenicity
Adult polyglucosan body disease, Glycogen storage disease, type IV
Health Risk
RS1456579860
Conflicting classifications of pathogenicity
Adult polyglucosan body disease, Glycogen storage disease, type IV
Health Risk
RS1559676007
Conflicting classifications of pathogenicity
Glycogen storage disease, type IV, Inborn genetic diseases
Health Risk
RS184391304
Conflicting classifications of pathogenicity
Adult polyglucosan body disease, Glycogen storage disease, type IV
Health Risk
RS185631651
Conflicting classifications of pathogenicity
Glycogen storage disease, type IV, Glycogen storage disease IV
Health Risk
RS186942296
Conflicting classifications of pathogenicity
Glycogen storage disease, type IV, Glycogen storage disease IV
Health Risk
RS192877602
Conflicting classifications of pathogenicity
Glycogen storage disease, type IV, Glycogen storage disease IV
Health Risk
RS199821084
Conflicting classifications of pathogenicity
Glycogen storage disease, type IV, Glycogen storage disease IV
Health Risk
All Variants (205)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779475367 | Health Risk | Pathogenic/Likely pathogenic | Adult polyglucosan body disease, Glycogen storage disease, type IV |
| RS781198373 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease, type IV, Glycogen storage disease IV |
| RS80338673 | Health Risk | Pathogenic/Likely pathogenic | Glycogen storage disease IV, combined hepatic and myopathic, Glycogen storage disease |
| RS869312919 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Glycogen storage disease, type IV |
| RS886058900 | Health Risk | Pathogenic/Likely pathogenic | GBE1-related disorder, Glycogen storage disease, type IV |