The BSND gene provides instructions for making a protein called barttin. This protein is found primarily in the kidneys, where it attaches (binds) to two specific chloride channels: ClC-Ka (produced from the CLCNKA gene) and ClC-Kb (produced from the READ MORE

The BTD gene provides instructions for making an enzyme called biotinidase. This enzyme recycles biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Biotinidase removes biotin that is bound to proteins in food, leaving the vitamin READ MORE

The BTK gene provides instructions for making a protein called Bruton tyrosine kinase (BTK), which is essential for the development and maturation of B cells. B cells are specialized white blood cells that help protect the body against infection. The READ MORE

The BUB1B gene provides instructions for making a protein called BUBR1, which is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arr READ MORE

The C19orf12 gene provides instructions for making a protein whose function is unknown. The protein is found in the membrane of cellular structures called mitochondria, which are the cell's energy-producing centers. Researchers suggest that the C19or READ MORE

The C2 gene provides instructions for making the complement component 2 protein. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destr READ MORE

The C3 gene provides instructions for making a protein called complement component 3 (or C3). This protein plays a key role in a part of the body's immune response known as the complement system. The complement system is a group of proteins that work READ MORE

The C8A gene provides instructions for making one piece, the alpha subunit, of a protein complex called complement component 8. The alpha subunit is linked to another piece of the complex called the gamma subunit (produced from the C8G gene). These t READ MORE

The C8B gene provides instructions for making one piece, the beta subunit, of a protein complex called complement component 8. To form this complex, the beta subunit interacts with another piece made up of the alpha subunit (produced from the C8A gen READ MORE

The C9orf72 gene provides instructions for making a protein that is found in various tissues. The protein is abundant in nerve cells (neurons) in the outer layers of the brain (cerebral cortex) and in specialized neurons in the brain and spinal cord READ MORE

The CA12 gene provides instructions for making a protein called carbonic anhydrase 12 (CA 12), which belongs to a family of proteins known as carbonic anhydrases. These proteins carry out a chemical reaction that involves the molecules carbon dioxide READ MORE

The CA5A gene provides instructions for making an enzyme called carbonic anhydrase VA. This enzyme helps convert carbon dioxide to a substance called bicarbonate. Bicarbonate is necessary to maintain the proper acid-base balance in the body, which is READ MORE