GALT galactose-1-phosphate uridylyltransferase
Gene ID: 2592, updated on 5-Mar-2024Gene type: protein coding
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- Go to complete Gene record for GALT
- Go to Variation Viewer for GALT variants
Summary
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase MedGen: C0268151OMIM: 230400GeneReviews: Classic Galactosemia and Clinical Variant Galactosemia, Duarte Variant Galactosemia | See labs |
Genomic context
- Location:
- 9p13.3
- Sequence:
- Chromosome: 9; NC_000009.12 (34646675..34651035)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GALT variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GALT database
- 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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