The HCCS gene, also known as the holocytochrome c-type synthase gene, is associated with a variety of conditions including microphthalmia, coloboma, and other eye-related defects. It plays a crucial role in the development of mitochondria, which are responsible for energy…
Mitochondrial DNA (mtDNA) is a type of genetic material found in the mitochondria, the powerhouses of the cells. It is maternally inherited, meaning it is passed down from the mother to her offspring. Unlike nuclear DNA, which is found in…
Down syndrome, also known as trisomy 21, is a genetic condition caused by the presence of all or part of a third copy of chromosome 21. It is one of the most common genetic conditions, affecting approximately 1 in every…
The TPO gene is a genetic variant that plays a crucial role in the production of the enzyme thyroperoxidase (TPO). This enzyme is responsible for the iodide oxidation and the organification of iodide to generate thyroid hormones. In this article,…
The RFXANK gene is associated with a rare genetic syndrome called bare lymphocyte syndrome type II. This syndrome affects the immune system and is characterized by a lack of major histocompatibility complex class II proteins on the surface of immune…
Cardiofaciocutaneous syndrome (CFC) is a rare genetic condition that affects various systems in the body. It is one of several disorders that belongs to a group of conditions known as RASopathies, which are caused by alterations in genes that are…
The RPL5 gene is one of the genes listed in the Online Mendelian Inheritance in Man (OMIM) database. It is a gene that plays an important role in the formation and function of ribosomes, which are essential for protein synthesis…
Fragile X-associated primary ovarian insufficiency, also known as FXPOI, is a condition that affects women and is characterized by irregular menstrual cycles and reduced fertility. It is caused by a reduced or absent production of the FMRP protein, which is…
The HLCS gene, also known as holocarboxylase synthetase, codes for the enzyme responsible for biotin metabolism in the body. Biotin is an essential nutrient that plays a crucial role in various bodily functions. Testing for mutations in the HLCS gene…
Arts syndrome is a rare genetic condition that primarily affects males. It is characterized by severe sensorineural hearing loss and intellectual disability. The condition is caused by mutations in the PRS gene, which encodes the enzyme phosphoribosylpyrophosphate synthetase. Arts syndrome…