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AGL (NM_000642) - amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

Glycogen Debranching Enzyme Isoform 1

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of AGL protein. View all 6 isoforms
AGL: glycogen debranching enzyme isoform 1
Description:

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].

Strand
+
Chromosome
1
Protein
1532 residues
All mutations
473
PTM sites
31
CDS
100,316,598 - 100,387,207
Transcription
100,315,639 - 100,389,579
1.89% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 178
UniProt
Ensembl