AGL

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. [provided by RefSeq, Jul 2008]

Description

Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Tissue specificity

Group enriched (skeletal muscle, tongue)

Subcell location

Nucleoplasm, Nuclear bodies, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (99850361 - 99924023)

Ensembl ID

ENSG00000162688  (ver. 103.38)

Orthologs

Mouse Agl: ENSMUSG00000033400

UniProt

P35573

neXtProt

NX_P35573

Human splice variants
Mouse splice variants

Protein structure