The OXCT1 gene provides instruction for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase, often abbreviated as SCOT. The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakd READ MORE

The PABPN1 gene provides instructions for making a protein that is found throughout the body. The PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The READ MORE

The PACS1 gene provides instructions for making a protein called phosphofurin acidic cluster sorting protein 1 (PACS1). The PACS1 protein is found in a complex network of membranes known as the trans-Golgi network, which sorts proteins and other mole READ MORE

The PADI3 gene provides instructions for making an enzyme called peptidylarginine deiminase type III. This enzyme modifies proteins by changing certain protein building blocks (amino acids). Specifically, it changes the positively charged amino acid READ MORE

The PAFAH1B1 gene (also known as LIS1) provides instructions for making a protein that is one part (subunit) of a complex called platelet-activating factor acetylhydrolase 1B (PAFAH1B). This complex regulates the amount of a molecule called platelet READ MORE

The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme helps process phenylalanine, which is a building block of proteins (amino acid). Phenylalanine is obtained through the diet; it is found in certain READ MORE

The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in specialized cellular structures called mitochondria, which are the cell's energy-producing centers. Within mitochondria, pantothenate kin READ MORE

The PARK7 gene provides instructions for making the DJ-1 protein. This protein is found in many tissues and organs, including the brain. Studies indicate that the DJ-1 protein has several functions, although none are fully understood. One of the prot READ MORE

The PAX2 gene belongs to a family of genes that plays a critical role in the formation of tissues and organs during embryonic development. The members of the PAX gene family are also important for maintaining the normal function of certain cells afte READ MORE

The PAX3 gene belongs to a family of PAX genes that plays a critical role in the formation of tissues and organs during embryonic development. The PAX gene family is also important for maintaining the normal function of certain cells after birth. To READ MORE

The PAX6 gene belongs to a family of genes that play a critical role in the formation of tissues and organs before birth. PAX genes are also important for the normal function of certain cells after birth. To carry out these roles, the PAX genes provi READ MORE

The PAX8 gene belongs to a family of genes that play critical roles in the formation of tissues and organs during embryonic development. The PAX gene family is also important for maintaining the normal function of certain cells after birth. To carry READ MORE