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- The NKX2-1 gene provides instructions for making a protein called homeobox protein Nkx-2.1, which is a member of the homeobox protein family. Homeobox proteins ...
- The RNU7-1 gene provides instructions for making one piece (subunit) of a group of proteins known as the U7 small ... replication). Variants (also called mutations) in the RNU7-1 gene have been found to cause Aicardi-Goutières ...
- The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which is a type of serine protease inhibitor (serpin). Serpins help ...
- The MAP2K1 gene provides instructions for making a protein known as MEK1 protein kinase. This protein is part of a signaling pathway called the RAS/MAPK ...
- The ENPP1 gene provides instructions for making a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). The ENPP1 protein helps break ...
- The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. ...
- The ALG1 gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar ...
- The UGT1A1 gene belongs to a family of genes that provide instructions for making enzymes called UDP-glucuronosyltransferases. These enzymes perform a chemical ...
- ... asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) asparagine-linked glycosylation 6 homolog (yeast, ...
- ... provides instructions for making a protein called HS-1-associated protein X-1 (HAX-1). This protein ...