The HGSNAT gene provides instructions for producing an enzyme called heparan-alpha-glucosaminide N-acetyltransferase (which is often shortened to N-acetyltransferase). This enzyme is located in lysosomes, compartments within cells that digest and rec READ MORE

The HINT1 gene provides instructions for making a protein called histidine triad nucleotide-binding protein 1 (HINT1). The function of this protein is not clear. Laboratory studies show that the HINT1 protein has the ability to attach (bind) to certa READ MORE

The HIVEP2 gene provides instructions for making a protein that functions as a transcription factor. Transcription factors attach (bind) to specific regions of DNA and help control the activity (expression) of particular genes. The HIVEP2 protein is READ MORE

The HJV gene provides instructions for making a protein called hemojuvelin. This protein is made in the liver, heart, and muscles used for movement (skeletal muscles). Hemojuvelin plays a role maintaining proper iron levels in the body by controlling READ MORE

The HLA-B gene provides instructions for making a protein that plays a critical role in the immune system. HLA-B is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the bo READ MORE

The HLA-DPB1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DPB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system dis READ MORE

The HLA-DQA1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DQA1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system dis READ MORE

The HLA-DQB1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DQB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system dis READ MORE

The HLA-DRB1 gene provides instructions for making a protein that plays a critical role in the immune system. The HLA-DRB1 gene is part of a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system dis READ MORE

The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. In many of the body's tissues, holoca READ MORE

The HMBS gene provides instructions for making an enzyme known as hydroxymethylbilane synthase. This enzyme is involved in the production of a molecule called heme. Heme is vital for all of the body's organs, although it is most abundant in the blood READ MORE

The HMGCL gene provides instructions for making an enzyme called 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMG-CoA lyase). This enzyme is found in mitochondria, which are the energy-producing centers inside cells. HMG-CoA lyase plays a critical rol READ MORE