GALK1 galactokinase 1
Gene ID: 2584, updated on 5-Mar-2024Gene type: protein coding
Also known as: GK1; GALK; HEL-S-19
- See all available tests in GTR for this gene
- Go to complete Gene record for GALK1
- Go to Variation Viewer for GALK1 variants
Summary
Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Deficiency of galactokinase | See labs |
Genomic context
- Location:
- 17q25.1
- Sequence:
- Chromosome: 17; NC_000017.11 (75751469..75765192, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GALK1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GALK1 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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