The HPD gene provides instructions for making an enzyme called 4-hydroxyphenylpyruvate dioxygenase. This enzyme is active in the liver and is involved in the breakdown of a protein building block (amino acid) called tyrosine. Tyrosine is found in many foods,…
The COL5A1 gene is a genetic component that plays a significant role in various scientific and health aspects. It is responsible for encoding the alpha 1 chain of type V collagen. Additional genetic testing of the COL5A1 gene in patients…
X-linked lissencephaly with abnormal genitalia (XLAG) is a rare genetic disorder that affects males. It is characterized by lissencephaly, which is the absence of normal grooves in the brain, and abnormal development of the genitalia. The condition is caused by…
The FANCG gene is one of the many genes that play a crucial role in Fanconi anemia, a rare genetic disorder that affects the body’s ability to repair damaged DNA. Variants in the FANCG gene can cause deficiencies in certain…
Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic syndrome that is associated with the folliculin (FLCN) gene. This condition is named after the three Canadian doctors who initially described the syndrome in 1977. BHDS is characterized by the development of benign…
The STXBP1 gene is a key gene involved in neurodevelopmental disorders. It is associated with various clinical conditions, including Lennox-Gastaut syndrome, epilepsia, and other forms of encephalopathy. This gene plays a crucial role in the formation and release of neurotransmitters,…
Isovaleric acidemia is a rare genetic condition that affects the way the body breaks down proteins from food. It is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is needed to properly metabolize the amino acid leucine. Without…
The GSN (Gelsolin) gene is responsible for producing a protein called gelsolin. Gelsolin plays a crucial role in actin filament dynamics, which is essential for cell structure and movement. Mutations in the GSN gene can lead to a variety of…
X-linked thrombocytopenia is a rare genetic condition characterized by a decreased number of platelets in the blood. It is caused by mutations in genes located on the X chromosome, which is one of the sex chromosomes. Thrombocytopenia refers to a…
Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial genetic disorder. It is characterized by the progressive loss of vision, typically affecting young adults, mostly males. LHON is named after Theodor Leber, a German ophthalmologist, who first described the condition…