The MBL2 gene, also known as the Mannose-Binding Lectin 2 gene, is a genetic variant that plays a crucial role in the immune system. This gene provides important information for the health of individuals and is linked to various conditions…
Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis (poiktmp) is a rare genetic condition characterized by the progressive development of skin abnormalities, joint contractures, muscle weakness, and lung scarring. It is also known as poikiloderma with tendon contractures…
The ALDH5A1 gene is responsible for producing an enzyme called succinic semialdehyde dehydrogenase. This enzyme helps convert a molecule called succinic semialdehyde into another molecule called succinic acid. The ALDH5A1 gene is listed in the OMIM database of genetic conditions…
Isolated Duane retraction syndrome is a rare clinical condition that affects the movement of the eye. It is characterized by limited horizontal eye movement, retraction of the eyeball into the orbit, and narrowing of the eye opening. This condition is…
Dopa-responsive dystonia, also known as dopa-responsive dystonia or DRD, is a rare neurological condition that is primarily inherited through genetic factors. In most cases, this condition is caused by a mutation or a deletion in the GCH1 gene, which affects…
The BDNF gene, also known as the Brain-Derived Neurotrophic Factor gene, is associated with a variety of health conditions and genetic changes. It has been linked to obesity, addiction, and eating disorders, among other diseases. The BDNF gene provides instructions…
The DCN gene, also known as the decorin gene, is a genetic sequence that contains instructions for producing the protein decorin. Decorin is a type of proteoglycan that is primarily found in connective tissues such as skin, tendons, and cartilage.…
Myopathy with deficiency of iron-sulfur cluster assembly enzyme, also known as ISCU myopathy, is a rare genetic condition associated with a deficiency of the enzyme iron-sulfur cluster assembly enzyme (ISCU). This deficiency leads to muscle weakness and other symptoms in…
The CHRNG gene is a genetic component that plays a significant role in various scientific and medical studies. It is one of the many genes that have been identified and studied extensively as a result of advancements made in the…
The PHF8 gene is an important gene that has been associated with various developmental conditions and disorders, including intellectual disability and cleft lip This gene is located on the X chromosome and is therefore referred to as an X-linked gene.…