GK glycerol kinase
Gene ID: 2710, updated on 10-Oct-2024Gene type: protein coding
Also known as: GK1; GKD
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- Go to complete Gene record for GK
- Go to Variation Viewer for GK variants
Summary
The protein encoded by this gene belongs to the FGGY kinase family. This protein is a key enzyme in the regulation of glycerol uptake and metabolism. It catalyzes the phosphorylation of glycerol by ATP, yielding ADP and glycerol-3-phosphate. Mutations in this gene are associated with glycerol kinase deficiency (GKD). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Inborn glycerol kinase deficiency | See labs |
Copy number response
Description |
---|
Copy number response Triplosensitivity No evidence available (Last evaluated 2012-09-06) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2012-09-06) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xp21.2
- Sequence:
- Chromosome: X; NC_000023.11 (30653423..30731462)
- Total number of exons:
- 23
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for GK variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GK homepage - Leiden Muscular Dystrophy pages
- 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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