As technology continues to advance, genetic testing has become an increasingly popular topic in the field of healthcare. Genetic tests can provide individuals with more information about their genetic makeup, including their risk for certain diseases and conditions. This chapter…
Genetic conditions are disorders caused by abnormalities in an individual’s genes or chromosomes. These abnormalities can result in a wide range of symptoms and health problems, including developmental delays, intellectual disability, and increased susceptibility to certain diseases. One category of…
The COQ2 gene is located on chromosome 4 and is associated with multiple-system primary CoQ10 deficiency. Coenzyme Q10 (CoQ10) is an important coenzyme involved in the production of energy in cells. Deficiency of this coenzyme can lead to a variety…
Trichohepatoenteric syndrome (THES) is a rare genetic condition characterized by abnormalities of the hair, liver, and intestine. It is an autosomal recessive disorder, which means that individuals with this condition inherit two copies of the mutated gene, one from each…
The AGPAT2 gene encodes an enzyme called lysophosphatidic acid acyltransferase beta (LPAAT-beta). This enzyme plays a crucial role in lipid metabolism by converting lysophosphatidic acid (LPA) to phosphatidic acid (PA) in the biosynthesis of glycerophospholipids. Mutations in the AGPAT2 gene…
Chromosome 7 is one of the 23 pairs of chromosomes in humans. It is a large autosome, meaning that it is not involved in determining an individual’s sex. Chromosomal abnormalities on chromosome 7 can cause a variety of conditions, including…
The CLN6 gene is a central player in the deterioration of cellular health, particularly in the context of ceroid-lipofuscinosis diseases. Also known as Batten disease, these conditions are characterized by an abnormal buildup of lipofuscin in various tissues, leading to…
The FTL gene, also known as the ferritin light polypeptide gene, is associated with various health conditions. It plays a crucial role in iron storage and regulation within the body. Mutations in the FTL gene can result in diseases and…
The PSENEN gene, also known as NCSTN, is a gene that is listed in various databases and catalogues as being related to several diseases. This gene is one of the genes in the PSEN1-PSEN2-NCSTN complex, which is involved in the…
The CEP57 gene, also known as the centrosomal protein 57, is a gene that plays a central role in various health-related conditions. This gene has been identified as a significant contributor to the development of variegated mosaic aneuploidy syndrome, a…