The RS1 gene, also known as the retinoschisis 1 gene, is a genetic variant that plays a central role in the development of juvenile retinoschisis, an X-linked genetic disease affecting the retina. Numerous scientific articles have shed light on the…
Genetic conditions are a group of disorders caused by changes in an individual’s genes or chromosomes. These conditions can affect various systems in the body and can lead to a wide range of symptoms and health problems. In this article,…
Methylmalonic acidemia is a rare genetic condition that is associated with a deficiency in the activity of the methylmalonyl-CoA mutase enzyme. This enzyme is responsible for breaking down certain proteins and fats in the body. Without the proper function of…
The MMACHC gene plays a crucial role in the trafficking of cobalamin, a type of vitamin B12, into cells and its conversion to methionine. Mutations in this gene have been listed in scientific databases such as OMIM and PubMed. These…
The CAV1 gene, also known as caveolin 1, is a gene listed in the OMIM catalog. It is associated with a condition called generalized lipodystrophy, which is characterized by the loss of adipose tissue in various parts of the body.…
The GATM gene codes for the enzyme guanidinoacetate N-methyltransferase, which is involved in the synthesis of creatine. Creatine is an important compound that plays a key role in energy metabolism, particularly in tissues that require rapid energy turnover such as…
Ataxia with vitamin E deficiency (AVED) is an autosomal recessive condition that is characterized by neurological symptoms caused by a deficiency in α-tocopherol, a form of vitamin E. This rare genetic disorder affects the central nervous system and is associated…
Chromosome 6 is a critical region of the human genome that is home to a plethora of genes with diverse functions. Located within this stretch of DNA are a variety of oncogenes and other genes that play crucial roles in…
The IFIH1 gene, also known as MDA5 (melanoma differentiation-associated protein 5), is a genetic component associated with various disorders and diseases. It plays a crucial role in the innate immune system, specifically in the detection of viral infections and initiation…
The NPHP1 gene, also known as nephronophthisis 1, is a gene associated with the development of various genetic disorders. It plays a role in the formation and function of cilia, which are hair-like structures found on the surface of cells.…