The MYH9 gene, also known as myosin-9, is associated with various genetic disorders and conditions. This gene plays a crucial role in the production of proteins that are essential for the normal functioning of cells in the body. Mutations and…
The MAN2B1 gene is associated with alpha-mannosidosis, a rare genetic disorder that affects various organs and tissues throughout the body. Alpha-mannosidosis is caused by mutations in the MAN2B1 gene, which provides instructions for making the alpha-mannosidase enzyme. This enzyme is…
Genetic testing has become more and more common in recent years, with advancements in technology and our understanding of genetics. There are different types of genetic tests that can be conducted, including genetic screening tests and genetic diagnostic tests. While…
Hypohidrotic ectodermal dysplasia (HED) is a rare condition that affects the development of ectodermal tissues. Ectodermal tissues include the skin, hair, nails, teeth, and sweat glands. People with HED typically have reduced or absent sweat glands, which can lead to…
Dent disease, also known as nephrolithiasis, is a rare genetic disorder that affects the kidneys. It is characterized by the presence of dents, or small holes, in the tubules of the kidneys. These dents disrupt the normal function of the…
CLN8 disease is a rare genetic condition that falls under the category of diseases called ceroid lipofuscinoses (CLNs). There are many different forms of CLNs, each associated with certain signs and symptoms. CLN8 disease is thought to occur due to…
The UBE3B gene is a gene that is associated with UBE3B syndrome. This gene is tagged as “UBE3B” and can be found on chromosome 12. UBE3B syndrome is a rare genetic disorder that is caused by mutations or damage to…
CLN10 disease, also known as congenital ceroid lipofuscinosis, is a rare genetic disorder that affects the nervous system. It is one of many conditions caused by a loss of function in genes associated with lysosomes, the cell’s waste disposal system.…
The DSPP gene, also known as dentin sialophosphoprotein, is a scientific term that refers to a gene associated with various dental diseases. These diseases are characterized by abnormal development or structure of tooth dentin, which can lead to conditions such…
The PYGL gene, also known as the glycogen phosphorylase L gene, is responsible for encoding the enzyme glycogen phosphorylase, which plays a crucial role in the breakdown of glycogen into glucose-1-phosphate. This type of sugar is then used as an…