LCAT (Lecithin-Cholesterol Acyltransferase) gene is a gene that is related to various genetic disorders and conditions. The LCAT gene is responsible for encoding the enzyme alpha-LCAT, which plays a critical role in cholesterol metabolism. Mutations in this gene can lead…
The MCCC1 gene is responsible for the production of a certain protein involved in the breakdown of a compound called 3-methylcrotonyl-coa. This compound plays a crucial role in the body’s metabolism, particularly in the process of breaking down certain amino…
The ANOS1 gene, also known as the KAL1 gene, is responsible for the production of anosmin-1. Anosmin-1 is a protein that plays a critical role in the development of the olfactory bulbs and other neural structures related to the sense…
The ALDH4A1 gene, also known as the pyrroline-5-carboxylate synthetase (P5CS) gene, is a scientific term for the ALDH4A1 gene. This gene encodes the enzyme responsible for the conversion of pyrroline-5-carboxylate (P5C) to L-proline, an essential amino acid. Mutations in this…
Dystonia 16 is a rare genetic condition that is caused by a mutation in the DYT16 gene. It is a type of dystonia, which is a neurological movement disorder characterized by involuntary muscle contractions. The condition typically begins in childhood…
The PDGFRA gene, occasionally referred to as the Platelet-Derived Growth Factor Receptor Alpha gene, is a gene that encodes for a receptor protein. The PDGFRA gene is associated with various diseases and conditions, and its proteins play a central role…
The RAF1 gene, also known as RAF proto-oncogene serine/threonine-protein kinase (RAF-1), is a gene that provides instructions for making a protein involved in cell signaling. This protein, called RAF-1, is a member of the RAF family of kinases and plays…
Chromosome 5 is one of the 23 pairs of chromosomes in humans. It is an important part of the human genome, containing a wealth of information crucial for the development and functioning of the body. Analysis of this chromosome has…
The IL23R gene is a gene that has been linked to various autoimmune disorders, including ankylosing spondylitis, ulcerative colitis, and Crohn’s disease. It is listed in the OMIM database as one of the genes associated with these diseases. This gene…
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare and hereditary central nervous system disorder that primarily affects the white matter of the brain. This condition leads to the loss of myelin, the protective covering of nerve…