Recombinant Human Glycogen debranching enzyme (AGL), Truncated

Uniprot Id

P35573

Target Species

Human

Target Name

AGL

Target Full Name

Glycogen debranching enzyme

Target Function

Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.

Target Involvement

Glycogen storage disease 3 (GSD3)

Target Subcellular Location

Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus.

Target Protein Families

Glycogen debranching enzyme family

Target Tissue Specificity

Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.

Target Synonyms

1110061O17Rik; 4-1; 4-glucantransferase; 6-glucosidase; 9430004C13Rik; 9630046L06Rik; AGL; AI850929; Amylo 1 6 glucosidase 4 alpha glucanotransferase; Amylo-1; Amylo-alpha-1; C77197; Dextrin 6-alpha-D-glucosidase; GDE; GDE_HUMAN; Glycogen debrancher; Glycogen debranching enzyme; Glycogen storage disease type III; Oligo-1

Target Background

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1, 6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described.