GBE1
Gene Information
- Official Symbol: GBE1
- Official Name: 1,4-alpha-glucan branching enzyme 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 2632
- UniProt: Q04446
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease). [provided by RefSeq, Jul 2008].
- UniProt Summary: Required for normal glycogen accumulation (PubMed:8463281, PubMed:26199317, PubMed:8613547). The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule (Probable). {ECO:0000269|PubMed:26199317, ECO:0000269|PubMed:8463281, ECO:0000269|PubMed:8613547, ECO:0000305}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 12312
- Expression level (log2 read counts): 6.62
GBE1 Expression in NALM6 Cells: 6.62
