GK

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.

Full Name

glycerol kinase

Function

Key enzyme in the regulation of glycerol uptake and metabolism.

Biological Process

Glycerol-3-phosphate biosynthetic process Source: BHF-UCL
Glycerol catabolic process Source: UniProtKB-UniPathway
Glycerol metabolic process Source: BHF-UCL
Phosphorylation Source: GO_Central
Triglyceride biosynthetic process Source: Reactome
Triglyceride metabolic process Source: BHF-UCL

Cellular Location

Cytoplasm; Mitochondrion outer membrane. In sperm and fetal tissues, the majority of the enzyme is bound to mitochondria, but in adult tissues, such as liver found in the cytoplasm.

Involvement in disease

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.