The ATP6V0A2 gene provides instructions for making one part, the a2 subunit, of a large protein complex (a group of proteins that work together). This protein complex is known as a vacuolar H+-ATPase (V-ATPase). A V-ATPase acts as a pump to move posi READ MORE

The ATP6V0A4 gene provides instructions for making a part (subunit) of a large protein complex known as vacuolar H + -ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) READ MORE

The ATP6V1B1 gene provides instructions for making a part (subunit) of a large protein complex known as vacuolar H + -ATPase (V-ATPase). V-ATPases are a group of similar complexes that act as pumps to move positively charged hydrogen atoms (protons) READ MORE

The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The ATP7A protein is found throu READ MORE

The ATP7B gene provides instructions for making a protein called copper-transporting ATPase 2. This protein is part of the P-type ATPase family, a group of proteins that transport metals into and out of cells by using energy stored in the molecule ad READ MORE

The ATP8B1 gene (also known as FIC1 ) provides instructions for making a protein that is found throughout the body. It is thought to control the distribution of certain fat molecules known as aminophospholipids on the inner surface of liver cell memb READ MORE

The ATRX gene provides instructions for making a protein that plays an essential role in normal development. Although the specific function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other gene READ MORE

The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus. Researchers believe that ataxin-1 may be involved in READ MORE

The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm) and seems to interact with a cell structure cal READ MORE

The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged protein READ MORE

The AUH gene provides instructions for producing an enzyme called 3-methylglutaconyl-CoA hydratase. This enzyme is found in cell structures called mitochondria, which convert energy from food into a form that cells can use. Within mitochondria, this READ MORE

The AURKC gene provides instructions for making a protein called aurora kinase C. This protein regulates certain events during cell division. Cell division occurs when a cell replicates and splits its contents, separating into two new cells. Aurora k READ MORE