The SPG7 gene provides instructions for producing a protein called paraplegin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins. Located wi READ MORE

The SPINK5 gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is fo READ MORE

The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the last of three steps in the production of a molecule called tetrahydrobiopterin (BH4). Other enzymes help carry out the first and second ste READ MORE

The SPRED1 gene provides instructions for making the Spred-1 protein, which helps control (regulate) the Ras/MAPK signaling pathway. The Ras/MAPK pathway is involved in the growth and division of cells (proliferation), the process by which cells matu READ MORE

The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membrane READ MORE

The SQSTM1 gene provides instructions for making a protein called sequestosome-1. This protein helps regulate bone remodeling, a normal process in which old bone is broken down and replaced by new bone. Sequestosome-1 is involved in a chemical signal READ MORE

The SRCAP gene provides instructions for making a protein called Snf2-related CREBBP activator protein, or SRCAP. SRCAP is one of several proteins that help activate a gene called CREBBP . The protein produced from the CREBBP gene, called CREB bindin READ MORE

The SRD5A2 gene provides instructions for making an enzyme called steroid 5-alpha reductase 2. This enzyme is involved in processing androgens, which are hormones that direct male sexual development. Specifically, the enzyme is responsible for a chem READ MORE

The SRY gene provides instructions for making a protein called the sex-determining region Y protein. This protein is involved in male-typical sex development, which usually follows a certain pattern based on an individual's chromosomes. People usuall READ MORE

The ST3GAL5 gene provides instructions for making an enzyme called GM3 synthase. This enzyme carries out a chemical reaction that is the first step in the production of certain fatty molecules (lipids) called gangliosides. Specifically, GM3 synthase READ MORE

The STAC3 gene provides instructions for making a protein whose function is not completely understood. It plays a role in muscles used for movement (skeletal muscles). For the body to move normally, skeletal muscles must tense (contract) and relax in READ MORE

The STAMBP gene provides instructions for making a protein called STAM binding protein. Although its exact function is not well understood, within cells this protein interacts with large groups of interrelated proteins known as endosomal sorting comp READ MORE