The ENPP1 gene provides instructions for making a protein that helps break down a molecule called adenosine triphosphate (ATP). Specifically, the ENPP1 protein breaks down ATP that is found outside of cells (extracellular). Extracellular ATP is quickly broken down into other molecules called adenosine monophosphate (AMP) and pyrophosphate. Pyrophosphate is important for preventing the accumulation of abnormal deposits of calcium (calcification) and other minerals (mineralization) in the body.
The ENPP1 protein also plays a role in the cell signaling that occurs in response to the hormone insulin. Part of the ENPP1 protein, called the SMB2 domain, interacts with the insulin receptor, which is a protein that binds to insulin and initiates cell signaling. Insulin plays many roles in the body. It helps regulate levels of blood glucose (also called blood sugar) by controlling how much glucose passes from the bloodstream into cells to be used as energy. Insulin is also important for the maintenance of the outer layer of skin (the epidermis). It helps control the transport of the pigment melanin from the cells that produce it (melanocytes) to epidermal cells called keratinocytes. Insulin is also involved in the development of keratinocytes.
Other Names
PC-1; PCA1
Related Genetics Topics
- Cole disease — MedlinePlus Genetics
- Generalized arterial calcification of infancy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 5167
- OMIM: 173335
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
