The ANKH gene provides instructions for making a protein that is involved in skeletal development. The ANKH protein plays a role in the development and function of cells that build bones (osteoblasts) and cells that break down bone (osteoclasts). Osteoclasts are involved in bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. In addition, the ANKH protein transports a molecule called pyrophosphate out of cells to the intricate network of proteins that forms in the spaces between cells (extracellular matrix). This extracellular pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in tissues. The ANKH protein may have other, unknown functions.
Other Names
ANK; ANKH_HUMAN; ankylosis, progressive homolog (mouse); FLJ27166; HANK; MANK; progressive ankylosis protein; SLC62A1
Related Genetics Topics
Identifiers
- NCBI Gene: 56172
- OMIM: 118600
- OMIM: 605145
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
