UGP2 UDP-glucose pyrophosphorylase 2
Gene ID: 7360, updated on 3-Nov-2024Gene type: protein coding
Also known as: UDPG; UGP1; DEE83; UDPGP; UGPP1; UGPP2; EIEE83; SVUGP2; UDPGP2; pHC379
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- Go to complete Gene record for UGP2
- Go to Variation Viewer for UGP2 variants
Summary
The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. GeneReviews: Not available | |
| Developmental and epileptic encephalopathy, 83 | See labs |
Genomic context
- Location:
- 2p15
- Sequence:
- Chromosome: 2; NC_000002.12 (63840969..63891560)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UGP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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