Category Genetics

The DSC2 gene, also known as desmocollin-2, is a gene responsible for producing a protein called desmocollin-2. This protein is found in tissues like the heart and skin, where it plays a crucial role in the structure and function of…

The HEXB gene, also known as the hexosaminidase B gene, is a gene that is crucial for the proper functioning of the body. It plays a vital role in the breakdown and recycling of certain substances in our cells. This…

Hereditary spherocytosis is a rare genetic condition that affects the shape and function of red blood cells. It is typically inherited in an autosomal dominant pattern, meaning that individuals with one copy of the mutated gene can pass the condition…

Schindler disease is a rare genetic condition that falls under the category of lysosomal storage disorders. It has a low frequency within the population, making it a rare disease. Schindler disease is caused by a deficiency in the alpha-N-acetylgalactosaminidase (alpha-NAGA)…

The HINT1 gene is a gene that has been associated with certain neurological conditions, particularly neuropathy. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, along with other genes that are linked to various diseases and conditions.…

Cartilage-hair hypoplasia, also known as chondrodysplasia, is a rare autosomal recessive condition characterized by short stature, sparse hair, and abnormal cartilage development. It is caused by mutations in the RMRP gene, which is responsible for the production of a noncoding…

The ANKRD11 gene is associated with several health conditions, including KBG syndrome. KBG syndrome is a rare genetic disorder that affects young individuals. It is characterized by intellectual disability, facial changes, and other related symptoms. The ANKRD11 gene mutation is…

Alopecia areata is a rare autoimmune disorder that causes hair loss in patches on the scalp. It can also affect other areas of the body. This condition occurs when the body’s immune system mistakenly attacks hair follicles, resulting in hair…

The ASPM gene is a protein-coding gene that is primarily associated with microcephaly, a condition characterized by a smaller than average head size and intellectual disability. It is also related to other genetic variants and diseases such as primary autosomal…

Intelligence is a complex trait that is influenced by a combination of genetic and environmental factors. While there is evidence to suggest that genetics plays a significant role in determining intelligence, the extent of this influence is still a topic…