UGGT1
Description
The UGGT1 (UDP-glucose glycoprotein glucosyltransferase 1) is a protein-coding gene located on chromosome 2.
UGGT1 is a protein that acts as a quality control mechanism for protein folding in the endoplasmic reticulum. It recognizes glycoproteins that have minor folding defects and adds a glucose molecule (reglucosylates) to a single N-glycan near the misfolded part of the protein. This reglucosylation allows the protein to be recognized by calreticulin, which recycles the protein back to the endoplasmic reticulum for refolding or degradation.
UGGT1 is also known as HUGT1, UGCGL1, UGT1.
Associated Diseases
- FRAXF syndrome
- birdshot chorioretinopathy
- snowflake vitreoretinal degeneration
- retinitis pigmentosa
- Lipedema
- lymphatic malformation 8
- Coats disease
- Joubert syndrome with oculorenal defect
- megalocornea
- cancer
