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 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…
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…
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…
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 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 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 GP1BA gene encodes the glycoprotein Ib alpha (GPIbα), which is a protein that is expressed on the surface of platelets. It forms a complex with other proteins, known as the GPIb-IX-V complex, and is involved in the binding of…
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…
Proteus syndrome is a rare genetic disorder that is associated with the overgrowth of various tissues in the body. It is characterized by the rapid and unrestricted proliferation of cells, leading to abnormal growth in multiple parts of the body.…