Category Genetics

The ROR2 gene is a member of the receptor tyrosine kinase (RTK) family, which plays a crucial role in the development and maintenance of cells. This gene is responsible for encoding the ROR2 receptor, also known as tyrosine protein kinase…

The ARSA gene provides instructions for making an enzyme called arylsulfatase A. This enzyme is involved in the breakdown (degradation) of certain molecules called sulfatides. Mutations in the ARSA gene can cause a deficiency or complete absence of arylsulfatase A…

3-hydroxy-3-methylglutaryl-CoA lyase deficiency, also known as HMGCL deficiency, is a rare genetic condition that affects the body’s ability to break down certain fats for energy. This condition is caused by mutations in the HMGCL gene. Patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency…

Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, is a rare genetic condition that affects infants. It is characterized by premature aging, abnormal growth, and developmental delay. The syndrome was first described in 1979 by Wiedemann and Rautenstrauch, and since…

The EPCAM gene, also known as the EPICD or TACSTD1 gene, is a gene located in the 2q21-q22 region of the human genome. This gene encodes a protein called epithelial cell adhesion molecule (EpCAM) which is involved in cell-to-cell adhesion…

Koolen-de Vries syndrome, also known as 17q21.31 microdeletion syndrome, is a rare genetic condition that was first described in 2006 by J.M. Koolen, et al. It is characterized by developmental delay, intellectual disability, congenital anomalies, and dysmorphic features. Patients with…

The NR5A1 gene, also known as the steroidogenic factor 1 (SF-1) gene, plays a crucial role in the development and function of the adrenal glands and gonads. Mutations in this gene have been linked to a wide range of conditions…

The PDHA1 gene is responsible for encoding the E1-alpha subunit of the pyruvate dehydrogenase complex. This complex is essential for the conversion of pyruvate to acetyl-CoA, which is a crucial step in energy production within cells. Deficiency in the PDHA1…

The WDR19 gene, also known as the WD repeat-containing protein 19 gene, is responsible for encoding a protein that plays a critical role in the development and function of cilia. Cilia are tiny, hair-like structures that extend from the surface…

Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare genetic disorder that primarily affects males. It is caused by mutations in the IDS gene, which leads to a deficiency of the enzyme iduronate-2-sulfatase. This enzyme is responsible for…