GBE1 Antibody [P1M6] | Primary Antibodies

Application: Reactivity: Human

Lane 1: Human fetal liver, Lane 2: PC-3

Usage Information

Dilution
WB1:1000 - 1:10000

Application
WB

Reactivity
Human

Source
Rabbit Monoclonal Antibody

Storage Buffer
PBS, pH 7.2+50% Glycerol+0.05% BSA+0.01% NaN3

Storage (from the date of receipt)
-20°C (avoid freeze-thaw cycles), 2 years

Predicted MW
76 kDa,80 kDa

Positive Control	Human fetal liver tissue; Human skeletal muscle tissue; PC-3 cells
Negative Control

Datasheet & SDS

Biological Description

Specificity
GBE1 Antibody [P1M6] detects endogenous levels of total GBE1 protein.

Clone
P1M6

Synonym(s)
Brancher enzyme; Glycogen-branching enzyme; GBE1

Background
GBE1 (glycogen branching enzyme 1) encodes a vital glycosyltransferase responsible for introducing α-1,6-glycosidic branch points into linear α-1,4-glucose chains, a process essential for the synthesis of compact, soluble glycogen granules predominantly in liver and muscle, thereby supporting energy homeostasis. It features an N-terminal helical segment, a carbohydrate-binding module 48 (CBM48, residues 76–183), a central (βα)8 catalytic barrel harboring the Asp357-Glu412-Asp481 catalytic triad and Tyr329 substrate-binding cleft, and a C-terminal amylase-like barrel domain; most pathogenic mutations cluster in the catalytic region, disrupting protein folding or glucosyl transfer activity. GBE1 operates downstream of glycogen synthase to generate branched glycogen structures that are rapidly mobilized by phosphorylase during fasting or exercise, crucial for glucose balance. Biallelic GBE1 mutations cause glycogen storage disease type IV (GSD IV, Andersen disease), characterized by absent or reduced enzyme activity, accumulation of insoluble polyglucosan bodies, hepatic failure, myopathy, and infantile lethality in severe forms, whereas partial deficiency, such as the p.Tyr329Ser mutation prevalent in Ashkenazi Jews, leads to adult polyglucosan body disease (APBD), marked by progressive neurodegeneration, spasticity, and neurogenic bladder due to CNS polyglucosan accumulation.

Background

GBE1 (glycogen branching enzyme 1) encodes a vital glycosyltransferase responsible for introducing α-1,6-glycosidic branch points into linear α-1,4-glucose chains, a process essential for the synthesis of compact, soluble glycogen granules predominantly in liver and muscle, thereby supporting energy homeostasis. It features an N-terminal helical segment, a carbohydrate-binding module 48 (CBM48, residues 76–183), a central (βα)8 catalytic barrel harboring the Asp357-Glu412-Asp481 catalytic triad and Tyr329 substrate-binding cleft, and a C-terminal amylase-like barrel domain; most pathogenic mutations cluster in the catalytic region, disrupting protein folding or glucosyl transfer activity. GBE1 operates downstream of glycogen synthase to generate branched glycogen structures that are rapidly mobilized by phosphorylase during fasting or exercise, crucial for glucose balance. Biallelic GBE1 mutations cause glycogen storage disease type IV (GSD IV, Andersen disease), characterized by absent or reduced enzyme activity, accumulation of insoluble polyglucosan bodies, hepatic failure, myopathy, and infantile lethality in severe forms, whereas partial deficiency, such as the p.Tyr329Ser mutation prevalent in Ashkenazi Jews, leads to adult polyglucosan body disease (APBD), marked by progressive neurodegeneration, spasticity, and neurogenic bladder due to CNS polyglucosan accumulation.

References
https://pubmed.ncbi.nlm.nih.gov/26199317/ https://pubmed.ncbi.nlm.nih.gov/21075835/

Reference Table for Selecting PVDF Membrane Pore Size Specifications

Protein Size (kDa)	PVDF Transfer Membrane Pore Size (μm)
< 10	0.22
10-20	0.22
20-30	0.45
30-45	0.45
45-70	0.45
80-100	0.45
100-140	0.45
> 140	0.45

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Protein Size (kDa)	Separating Gel Percentage
4-40	20%
12-45	15%
10-70	12.5%
15-100	10%
25-100	8%
60-210	5%