The PTCH1 gene, also known as the patched 1 gene, plays a critical role in the normal function and growth of cells. Mutations in this gene have been associated with a variety of health conditions, including Gorlin syndrome, holoprosencephaly, and…
Atelosteogenesis type 1 is a rare genetic condition that is classified under the category of skeletal dysplasias. It is characterized by underdeveloped bones, particularly in the limbs and spine. This condition is caused by mutations in the FLNB gene, which…
Fibrochondrogenesis is a rare genetic condition characterized by wide-ranging abnormalities in the formation of connective tissue. It is caused by mutations in the COL11A2 gene. The inheritance pattern of fibrochondrogenesis is autosomal recessive, meaning that both parents must carry a…
Cerebral folate transport deficiency is a rare genetic condition associated with a deficiency in the transport of folate from the blood to the brain. This condition is caused by mutations in the folate receptor 1 (FOLR1) gene and leads to…
Temperament is a psychological trait that refers to a person’s characteristic patterns of behavior, emotion, and thought. It is believed to be influenced by a combination of genetic and environmental factors. There are variations in temperamental traits among individuals, and…
The PPOX gene, also known as the protoporphyrinogen oxidase gene, is responsible for encoding the enzyme protoporphyrinogen oxidase. This enzyme is involved in the heme biosynthesis pathway, which is essential for the production of hemoglobin, myoglobin, and other heme-containing proteins…
Porphyria is a group of rare genetic disorders caused by mutations in the genes responsible for the production of heme, a component of hemoglobin that is essential for the function of red blood cells. These disorders are inherited in an…
The CCND2 gene is a genetic sequence that encodes the protein cyclin D2. This protein plays a key role in the regulation of cell cycle progression. Mutations in the CCND2 gene have been associated with various diseases and conditions, including…
The NNT gene is a genetic variant that has been found to cause deficiency in the enzyme NAD(P)H:quinone oxidoreductase 1 (NQO1). This deficiency can lead to various health conditions and diseases. Studies have shown that changes in the NNT gene…
The TSC1 gene, also known as the tuberous sclerosis complex 1 gene, is a certain gene that is responsible for causing tuberous sclerosis. Tuberous sclerosis is a group of genetic disorders that affect the growth of tumors in various parts…