GBE1 Chromosome 3

1,4-alpha-glucan branching enzyme 1
205 variants 205 Health Risk

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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
RS1319283898 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease
RS1367364158 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS137852887 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic, Glycogen storage disease
RS137852888 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic, Glycogen storage disease due to glycogen branching enzyme deficiency
RS140571802 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS1456579860 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS1559676007 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Inborn genetic diseases
RS184391304 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS185631651 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS186942296 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS192877602 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS199821084 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS200544679 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS201029706 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS201758548 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Adult polyglucosan body disease
RS202158511 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Adult polyglucosan body disease
RS2107072252 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic, Glycogen storage disease
RS369574719 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS370326965 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS371048718 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic, Glycogen storage disease
RS372821643 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic, Glycogen storage disease
RS376374984 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS376809475 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS377105672 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS377305989 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic, Glycogen storage disease
RS527789602 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS539925873 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS544821452 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic, Glycogen storage disease
RS552094593 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita, Adult polyglucosan body disease
RS555689284 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS559653237 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS563241317 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Adult polyglucosan body disease
RS62267114 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Adult polyglucosan body disease
RS747155575 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS752625236 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IV, classic hepatic, Glycogen storage disease
RS754051144 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Adult polyglucosan body disease
RS757297254 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS757655010 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Adult polyglucosan body disease
RS758786811 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease
RS759707498 Health Risk Conflicting classifications of pathogenicity GBE1-related disorder, Glycogen storage disease, type IV
RS760661724 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Adult polyglucosan body disease
RS763302311 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS765204887 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS766366468 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
RS770427750 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS771405370 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, GBE1-related disorder
RS774354874 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS774619760 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease
RS775486403 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease, type IV
RS780431086 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV, Glycogen storage disease IV
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