GK gene

glycerol kinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Mar 2011]

From UniProt:

Key enzyme in the regulation of glycerol uptake and metabolism.

From NCBI Gene:

  • Deficiency of glycerol kinase

From UniProt:

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. [MIM:307030]

Cytogenetic Location: Xp21.2, which is the short (p) arm of the X chromosome at position 21.2

Molecular Location: base pairs 30,653,348 to 30,731,462 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp21.2, which is the short (p) arm of the X chromosome at position 21.2
  • GK1
  • GKD