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 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 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…
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…
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…
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…
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 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.…
The PIK3R2 gene, also known as phosphoinositide-3-kinase regulatory subunit 2, is a gene that encodes a protein involved in the PI3K-Akt-mTOR signaling pathway. This pathway plays a crucial role in cell growth, proliferation, and survival. Mutations in the PIK3R2 gene…
The SPR gene, also known as sepiapterin reductase gene, is responsible for the production of the sepiapterin reductase enzyme. Mutations in this gene can lead to a deficiency in the enzyme, resulting in various dopa-responsive conditions. Dopa-responsive conditions are a…