UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
Gene ID: 56886, updated on 10-Oct-2024Gene type: protein coding
Also known as: UGT1; HUGT1; UGCGL1
- See all available tests in GTR for this gene
- Go to complete Gene record for UGGT1
- Go to Variation Viewer for UGGT1 variants
Summary
UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
Genomic context
- Location:
- 2q14.3
- Sequence:
- Chromosome: 2; NC_000002.12 (128091200..128195677)
- Total number of exons:
- 44
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for UGGT1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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