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- The PRDX1 gene provides instructions for making the peroxiredoxin-1 (PRDX1) protein. This protein is part of a family of peroxiredoxin proteins that are primarily ...
- The HCFC1 gene provides instructions for making a protein, called HCF-1, that helps regulate the activity of other genes. HCF-1 interacts with proteins called ...
- The CLCN7 gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels, which transport negatively charged ...
- The PRF1 gene provides instructions for making a protein called perforin. This protein is found in immune cells (lymphocytes) called T cells and natural killer ( ...
- The PDHB gene provides instructions for making a protein called E1 beta. E1 beta is a piece (a subunit) of a larger protein: two E1 beta proteins combine ...
- The NCF4 gene provides instructions for making a protein called neutrophil cytosolic factor 4 (also known as p40-phox). This protein is one part (subunit) ...
- The PDHA1 gene provides instructions for making a protein called E1 alpha. The E1 alpha protein is a piece (a subunit) of a larger protein: two E1 alpha proteins ...
- The ABCA3 gene provides instructions for making a protein involved in surfactant production. Surfactant is a mixture of certain fats (called phospholipids) ...
- The FOLR1 gene provides instructions for making a protein called folate receptor alpha. This protein helps regulate transport of the B-vitamin folate into ...
- Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition ...