GK

Chr Xp21.2

glycerol kinase

Aliases:: GK1, GKD
MANE:: ENST00000427190.6

OMIM: 300474 ↗NCBI: 2710 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GK · P32189

v62025-08-01

Predicted Aligned Error matrix for GK — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.6/ 100

Very high

559 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)11%
Low(50–70)4%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Likely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Undiagnosed metabolic disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Childhood onset dystonia, chorea or related movement disorder
Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

isolated glycerol kinase deficiency
0.74
Glycerol kinase deficiency
0.73
inborn glycerol kinase deficiency
0.72
hereditary disease
0.40
glycerol kinase deficiency, adult form
0.37
glycerol kinase deficiency, juvenile form
0.37
Global developmental delay
0.12
Absent speech
0.12
Seizure
0.12
type 2 diabetes mellitus
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Glycerol kinase

Kinase that plays a key role in glycerol metabolism, catalyzing its phosphorylation to produce sn-glycerol 3-phosphate. Sn-glycerol 3-phosphate is a crucial intermediate in various metabolic pathways, such as the synthesis of glycerolipids and triglycerides, glycogenesis, glycolysis and gluconeogenesis