Pharmacogenomics is a branch of genomic research that focuses on how a person’s genetic makeup affects their response to drugs. It combines the fields of pharmacology (the study of drugs) and genomics (the study of genes and their functions) to…
X-linked infantile spinal muscular atrophy, also known as X-linked spinal muscular atrophy type 2 (XLSMA2), is a rare genetic condition that affects the nerves in the spinal cord. This condition is caused by a mutation in the gene associated with…
Adenylosuccinate lyase deficiency, also known as ADSL deficiency, is a rare genetic condition that affects the human body. It is caused by a deficiency of the adenylosuccinate lyase (ADSL) enzyme, which converts adenylosuccinate to AMP (adenosine monophosphate) and fumarate. ADSL…
The ASAH1 gene, also known as acid ceramidase gene, is a gene that encodes for the enzyme acid ceramidase. This enzyme is typically found in lysosomes and is responsible for breaking down ceramides, which are fatty acids that play a…
In the vast and complex study of genetics, there is one chapter that stands out: the gene. Genes are the building blocks of life, found in every living organism on Earth. They are segments of DNA that contain the unique…
Crouzon syndrome with acanthosis nigricans, also known as crouzonodermoskeletal syndrome, is a rare genetic condition characterized by the abnormal growth of the skull, facial features, and skin. This condition is caused by mutations in the FGFR3 gene, which is involved…
The HAMP gene, also known as the Hepcidin Antimicrobial Peptide gene, is a genetic gene associated with a variety of conditions and diseases. It plays a crucial role in regulating iron levels in the body. Mutations in this gene can…
The ACAD9 gene is a key player in maintaining good health. It encodes for an enzyme called acyl-CoA dehydrogenase 9, which is involved in the oxidation of fatty acids in the mitochondria. Deficiency in this gene can lead to a…
The FMR1 gene, also known as fragile X mental retardation 1 gene, is a gene that is primarily associated with Fragile X syndrome (FXS), a genetic disorder that causes intellectual disability and other related conditions. The gene is found on…
The FZD6 gene is a receptor gene that is involved in various genetic disorders and diseases. It is listed in scientific databases and health resources under different names, including “frizzled-6” and “FZD6.” This gene plays a crucial role in the…