FAM20C

Description

The FAM20C gene provides instructions for making an enzyme called family with sequence similarity 20, member C. This enzyme plays a crucial role in phosphate metabolism by adding phosphate groups to proteins, a process known as phosphorylation. This modification is essential for regulating various cellular functions, including protein activity, cell signaling, and growth. FAM20C is particularly important for bone development, as it phosphorylates proteins involved in bone formation and mineralization. Mutations in the FAM20C gene can lead to various skeletal disorders.

Associated Diseases

• Hypophosphatemic rickets with hypercalciuria (HHRH)
• Raine syndrome
• Idiopathic infantile hypercalcemia (IIH)
• Hypophosphatemic rickets (HR)
• Rickets and osteomalacia

Did you know?

FAM20C is one of the few genes known to be involved in both bone development and phosphate metabolism.