FAM20A

Description

FAM20A, short for "Family with sequence similarity 20, member A", is a crucial gene responsible for encoding a protein kinase that plays a central role in phosphate metabolism. This protein, known as FAM20A kinase, functions as a master regulator, orchestrating the phosphorylation of a wide range of proteins and lipids. This intricate phosphorylation process governs cellular signaling pathways, influences the formation of bone and teeth, and impacts the overall regulation of phosphate homeostasis. Variations or mutations in the FAM20A gene can disrupt these vital functions, leading to a spectrum of human diseases.

Associated Diseases

• Hypophosphatemic rickets with hypercalciuria (HRH)
• Raine syndrome
• Autosomal recessive hypophosphatemia (ARH)
• Hypophosphatasia
• Rickets

Did you know?

FAM20A kinase is unique in its ability to phosphorylate both proteins and lipids, a dual function that underscores its multifaceted role in cellular processes.