The GABRA1 gene is responsible for encoding the alpha-1 subunit of the GABA-A receptor. This receptor is a critical component of the central nervous system and plays a crucial role in inhibitory neurotransmission. GABA-A receptors are involved in various processes…
Campomelic dysplasia is a rare genetic condition that primarily affects the development of the skeleton. It is one of the diseases that can cause abnormalities in the spine and other parts of the body. The high frequency of this condition…
The MSTN gene, also known as the myostatin gene, is a key gene related to skeletal muscle growth and development. It plays a crucial role in regulating muscle mass and strength. Mutations or changes in this gene can lead to…
Lacrimo-Auriculo-Dento-Digital syndrome, also known as Levy-Hollister syndrome, is a rare genetic condition that affects multiple systems in the body. It is characterized by features such as tear duct abnormalities, hearing loss, cleft lip and/or palate, dental defects, and digital abnormalities.…
The ACAN gene, also known as aggrecan, is a gene that provides instructions for making a protein called aggrecan. This protein is one of the main components of cartilage, which is the tough, flexible tissue that lines the ends of…
Dubin-Johnson syndrome is a rare genetic condition that affects the liver. It is one of the rarest diseases, with only a few hundred cases reported worldwide. Dubin-Johnson syndrome is associated with the buildup of a pigment called bilirubin in the…
Lattice corneal dystrophy type II is a rare genetic condition that affects the cornea, the clear front layer of the eye. It is typically caused by mutations in the TGFBI gene, which is responsible for producing a protein called beta-2…
Chromosome 13 is one of the 23 pairs of chromosomes in humans. It is a genetic cluster of DNA that contains important information related to health and development. Located on the short arm of chromosome 13 at position 13q12.3 is…
Fragile X syndrome (FXS) is a rare genetic disorder that affects both males and females. It is caused by changes in the FMR1 gene on the X chromosome. The FMR1 gene provides instructions for making a protein called fragile X…
Troyer syndrome, also known as SPG20, is a rare genetic condition that affects the function of muscles in the lower limbs. It is associated with pure spasticity, a condition characterized by muscle stiffness and involuntary muscle contractions. The syndrome is…