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

Protein family

Enzymes, Mapped to UniProt SWISS-PROT, Plasma proteins, Potential transmembrane proteins

Chromosome

1:p21.2 (100315640 - 100389579)

Ensembl ID

ENSG00000162688  (ver. 71.37)

Orthologs

Mouse Agl: ENSMUSG00000033400

Human splice variants
Mouse splice variants