GLYCTK Chromosome 3
Glycerate kinase
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What This Gene Does
This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
Associated Conditions (2)
D-Glyceric aciduria
GLYCTK-related disorder
Key Variants
RS121909448
Conflicting classifications of pathogenicity
D-Glyceric aciduria, D-Glyceric aciduria
Health Risk
RS150662353
Conflicting classifications of pathogenicity
D-Glyceric aciduria, GLYCTK-related disorder, D-Glyceric aciduria
Health Risk
RS1700517033
Conflicting classifications of pathogenicity
D-Glyceric aciduria, D-Glyceric aciduria
Health Risk
RS199508919
Conflicting classifications of pathogenicity
Health Risk
RS199906865
Conflicting classifications of pathogenicity
D-Glyceric aciduria, D-Glyceric aciduria
Health Risk
RS769748483
Conflicting classifications of pathogenicity
Health Risk
RS910401729
Conflicting classifications of pathogenicity
D-Glyceric aciduria, D-Glyceric aciduria
Health Risk
RS760836671
Likely pathogenic
Health Risk
RS121909447
Pathogenic
D-Glyceric aciduria, D-Glyceric aciduria
Health Risk
RS121909449
Pathogenic
D-Glyceric aciduria, D-Glyceric aciduria
Health Risk
RS2471084696
Pathogenic
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121909448 | Health Risk | Conflicting classifications of pathogenicity | D-Glyceric aciduria, D-Glyceric aciduria |
| RS150662353 | Health Risk | Conflicting classifications of pathogenicity | D-Glyceric aciduria, GLYCTK-related disorder, D-Glyceric aciduria |
| RS1700517033 | Health Risk | Conflicting classifications of pathogenicity | D-Glyceric aciduria, D-Glyceric aciduria |
| RS199508919 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199906865 | Health Risk | Conflicting classifications of pathogenicity | D-Glyceric aciduria, D-Glyceric aciduria |
| RS769748483 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS910401729 | Health Risk | Conflicting classifications of pathogenicity | D-Glyceric aciduria, D-Glyceric aciduria |
| RS760836671 | Health Risk | Likely pathogenic | — |
| RS121909447 | Health Risk | Pathogenic | D-Glyceric aciduria, D-Glyceric aciduria |
| RS121909449 | Health Risk | Pathogenic | D-Glyceric aciduria, D-Glyceric aciduria |
| RS2471084696 | Health Risk | Pathogenic | — |