ENPP1 : ectonucleotide pyrophosphatase/phosphodiesterase 1

Title: The ENPP1 Gene: A Guardian of Cellular Health and Metabolism

Description:

The ENPP1 gene is a vital blueprint for creating a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This protein plays a crucial role in maintaining cellular health, regulating blood sugar, and preventing calcium deposits in the body.

Associated Diseases:

Mutations in the ENPP1 gene are linked to several diseases, including:

• Generalized arterial calcification of infancy (GACI): A rare genetic disorder characterized by widespread calcification of arteries and other tissues.
• Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): A bone disease caused by impaired phosphate absorption in the kidneys.
• Cutis laxa type 1A (CL1A): A connective tissue disorder characterized by loose and wrinkled skin.

Did you Know ?

Approximately 1 in 100,000 individuals worldwide is affected by GACI, highlighting the rarity of this severe condition.