Category Genetics

The ACY1 gene encodes the enzyme aminoacylase 1, which is involved in the metabolism of amino acids. This gene is listed in omim, a catalog of human genes and genetic disorders. Mutations in the ACY1 gene can lead to ACY1…

Chromosome 12 is one of the 23 pairs of chromosomes in humans. It is a vital part of our genetic makeup, containing important genes that play a crucial role in various aspects of our health. Research conducted by the National…

The NBN gene, also known as nibrin or Nijmegen breakage syndrome 1 (NBS1) gene, is responsible for encoding a protein that plays a critical role in repairing DNA breaks. DNA breaks can occur naturally during cell division or as a…

Metatropic dysplasia is a rare form of skeletal dysplasia characterized by narrow chest, severe short stature, and abnormal skeletal development. It is considered one of the more severe types of genetic disorders and is often associated with additional diseases and…

Myoclonic epilepsy with ragged-red fibers (MERRF) is a rare genetic condition characterized by a combination of myoclonus (quick, jerking muscle spasms), seizures, and progressive weakness. It is caused by mutations in the mitochondrial genes, which are responsible for producing energy…

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…

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…

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…