GK Chromosome X
Glycerol kinase
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What This Gene Does
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]
Gene Info
Gene Group
Glycerol kinase family
Locus Type
gene with protein product
Location
Xp21.2
Ensembl
ENSG00000198814
Associated Conditions (7)
Inborn genetic diseases
GK-related disorder
Inborn glycerol kinase deficiency
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Key Variants
RS398123196
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772942427
Conflicting classifications of pathogenicity
Inborn genetic diseases, GK-related disorder, Inborn genetic diseases
Health Risk
RS1601910946
Likely pathogenic
Health Risk
RS1933016162
Likely pathogenic
Inborn genetic diseases, Inborn glycerol kinase deficiency, Inborn genetic diseases
Health Risk
RS1935220169
Likely pathogenic
Thyroid cancer, nonmedullary, 1
Health Risk
RS2519209274
Likely pathogenic
GK-related disorder, GK-related disorder
Health Risk
RS2519279079
Likely pathogenic
Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency
Health Risk
RS2519351408
Likely pathogenic
Health Risk
RS753857355
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057520647
Pathogenic
Health Risk
RS1057520781
Pathogenic
Health Risk
RS1085307629
Pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS398123196 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772942427 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, GK-related disorder, Inborn genetic diseases |
| RS1601910946 | Health Risk | Likely pathogenic | — |
| RS1933016162 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn glycerol kinase deficiency, Inborn genetic diseases |
| RS1935220169 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2519209274 | Health Risk | Likely pathogenic | GK-related disorder, GK-related disorder |
| RS2519279079 | Health Risk | Likely pathogenic | Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency |
| RS2519351408 | Health Risk | Likely pathogenic | — |
| RS753857355 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1057520647 | Health Risk | Pathogenic | — |
| RS1057520781 | Health Risk | Pathogenic | — |
| RS1085307629 | Health Risk | Pathogenic | — |
| RS132630328 | Health Risk | Pathogenic | Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency |
| RS132630329 | Health Risk | Pathogenic | Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency |
| RS132630330 | Health Risk | Pathogenic | Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency |
| RS132630331 | Health Risk | Pathogenic | Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency |
| RS2147218235 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2519268573 | Health Risk | Pathogenic | — |
| RS2519279463 | Health Risk | Pathogenic | Inborn glycerol kinase deficiency, Nonpapillary renal cell carcinoma, Inborn glycerol kinase deficiency |
| RS587776740 | Health Risk | Pathogenic | Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency |
| RS766772846 | Health Risk | Pathogenic | Inborn glycerol kinase deficiency, Inborn glycerol kinase deficiency |