GK

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.

Glycerol kinase deficiency

GKD

A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine.

None

The disease is caused by variants affecting the gene represented in this entry.

Polyol metabolism; glycerol degradation via glycerol kinase pathway; sn-glycerol 3-phosphate from glycerol: step 1/1.

Belongs to the FGGY kinase family.

Isoform 2

Widely expressed in fetal and adult tissues.

Isoform 3

Widely expressed in fetal and adult tissues.

Isoform 4

The sole isoform expressed in adult liver and kidney.

• Mitochondrion outer membrane
• Single-pass membrane protein
• Nucleus
• Cytoplasm
• Cytosol
• Glycerol kinase activity is more cytosolic in some tissues. It probably represents the expression of isoforms lacking a transmembrane domain.
• Isoform 3
• Mitochondrion outer membrane
• Single-pass membrane protein
• Nucleus
• In sperm and fetal tissues, the majority of the activity is associated with mitochondria.
• Isoform 4
• Cytoplasm
• Cytosol
• In adult tissues, such as liver the glycerol kinase activity is more cytosolic. It probably represents the expression of this isoform which lacks a transmembrane domain.

Glycerol kinase, Glycerokinase, ATP:glycerol 3-phosphotransferase, GK

• entrezGene:2710
• omim:300474
• swissprot:P32189

Proteins

Metabolism

61245Da