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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GLYCTK
glycerate kinase
Chromosome 3 · 3p21.2
NCBI Gene: 132158Ensembl: ENSG00000168237.18HGNC: HGNC:24247UniProt: C9JA32
21PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytosolglycerate kinase activityprotein phosphorylationprotein bindingD-glyceric aciduriabipolar disorderschizophreniadiverticular disease
✦AI Summary

GLYCTK encodes glycerate kinase, a mitochondrial enzyme 1 that catalyzes protein phosphorylation in serine and fructose metabolism 2. The enzyme localizes exclusively to mitochondria 1, where it phosphorylates D-glycerate as part of normal metabolic pathways 3. GLYCTK deficiency causes D-glyceric aciduria (DGA), a rare autosomal-recessive inborn error of metabolism characterized by elevated urinary D-glyceric acid 2. Clinical presentations are highly variable, ranging from severe neurological symptoms including muscular hypotonia, joint hypermobility, and tremor 2 to asymptomatic cases, suggesting disease heterogeneity 1. Pathogenic mutations in GLYCTK include frameshift and missense variants that result in loss of enzyme activity and immunoreactivity 3. Beyond classical metabolic disease, GLYCTK variants show emerging associations with complex traits. Reduced GLYCTK expression in hippocampal tissue is linked to oscillatory brain activity variations affecting alpha power and psychiatric risk 4. GLYCTK expression is also protective against diabetic kidney disease, with downregulation observed in podocytes and tubular cells in affected kidneys 5. Additionally, GLYCTK expression variations are associated with anxiety disorder risk through cis-regulated expression mechanisms 6, indicating pleiotropic effects beyond its primary metabolic role.

Sources cited
1
GLYCTK deficiency causes D-glyceric aciduria with elevated urinary D-glyceric acid and clinical features including muscular hypotonia, joint hypermobility, and tremor
PMID: 31837836
2
GLYCTK encodes a mitochondrial enzyme involved in serine and fructose metabolism; human GLYCTK exclusively localizes to mitochondria
PMID: 41330740
3
GLYCTK mutations cause D-glycerate kinase deficiency; pathogenic variants include frameshift and missense mutations resulting in loss of enzyme activity
PMID: 20949620
4
GLYCTK expression in hippocampal tissue is linked to alpha power oscillatory brain activity and psychiatric liability
PMID: 29947131
5
GLYCTK expression is protective against diabetic kidney disease; downregulated in podocytes and tubular cells in DKD
PMID: 41498039
6
GLYCTK is a transcriptome-wide significant gene whose cis-regulated expression is associated with anxiety disorder risk
PMID: 34650599
Disease Associationsⓘ21
D-glyceric aciduriaOpen Targets
0.74Strong
bipolar disorderOpen Targets
0.11Weak
schizophreniaOpen Targets
0.11Weak
diverticular diseaseOpen Targets
0.10Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.06Suggestive
granular corneal dystrophy type IOpen Targets
0.05Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
lattice corneal dystrophy type IOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.05Suggestive
Lisch epithelial corneal dystrophyOpen Targets
0.05Suggestive
X-linked corneal dermoidOpen Targets
0.05Suggestive
Central cloudy dystrophy of FrancoisOpen Targets
0.05Suggestive
central cloudy dystrophy of FrançoisOpen Targets
0.05Suggestive
Schnyder corneal dystrophyOpen Targets
0.05Suggestive
Peters anomalyOpen Targets
0.05Suggestive
Persistent pupillary membraneOpen Targets
0.05Suggestive
macular corneal dystrophyOpen Targets
0.05Suggestive
D-glyceric aciduriaUniProt
Pathogenic Variants5
NM_145262.4(GLYCTK):c.615T>A (p.Arg205=)Likely pathogenic
D-Glyceric aciduria
★☆☆☆2025→ Residue 205
NM_145262.4(GLYCTK):c.725_731del (p.Ser242fs)Pathogenic
not provided
★☆☆☆2023→ Residue 242
NM_145262.4(GLYCTK):c.239dup (p.Asn80fs)Likely pathogenic
not provided
★☆☆☆2020→ Residue 80
NM_145262.4(GLYCTK):c.1448del (p.Phe483fs)Pathogenic
D-Glyceric aciduria
☆☆☆☆2010→ Residue 483
NM_145262.4(GLYCTK):c.1558del (p.Leu520fs)Pathogenic
D-Glyceric aciduria
☆☆☆☆2010→ Residue 520
View on ClinVar ↗
Related Genes
PPP4R1Shared pathway100%PGAM4Protein interaction97%PKMProtein interaction96%GPIProtein interaction96%PDHBProtein interaction94%GAPDHProtein interaction94%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
4%
Lung
2%
Ovary
2%
Heart
1%
Brain
0%
Gene Interaction Network
Click a node to explore
GLYCTKPPP4R1PGAM4PKMGPIPDHBGAPDH
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IVS8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.70–1.30]
RankingsWhere GLYCTK stands among ~20K protein-coding genes
  • #13,919of 20,598
    Most Researched21
  • #3,635of 5,498
    Most Pathogenic Variants5
  • #13,682of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedGLYCTK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
d-Glycerate kinase deficiency in a neuropediatric patient.
PMID: 31837836
Brain Dev · 2020
1.00
2
Human d-Glycerate Kinase, Encoded by GLYCTK and Deficient in d-Glyceric Aciduria, Is a Mitochondrial Enzyme.
PMID: 41330740
J Inherit Metab Dis · 2026
0.90
3
Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2.
PMID: 16753811
DNA Seq · 2006
0.80
4
Mitochondrial Dysfunction and Immune Cell Infiltration in Diabetic Kidney Disease: A Mendelian Randomization and Multiomics Study.
PMID: 41498039
Mediators Inflamm · 2025
0.70
5
[The Interaction of miRNA-5p and miRNA-3p with the mRNAs of Orthologous Genes].
PMID: 31397443
Mol Biol (Mosk) · 2019
0.60