The SGCG gene, also known as sarcoglycan gamma gene, is one of the genes responsible for limb-girdle muscular dystrophy (LGMD) and other related muscular diseases. It belongs to a complex of genes called the sarcoglycan complex that are involved in…
The TFR2 gene, also known as the transferrin receptor 2 gene, is a gene related to the hemochromatosis conditions. It encodes a receptor protein that is found primarily in hepatocytes, but also in other tissues. This receptor is involved in…
The GTF2IRD1 gene is a gene that has been extensively studied and linked to several genetic disorders and conditions. It is also known as Williams-Beuren syndrome transcription factor (WBSCR11) gene. This gene provides instructions for making a protein that plays…
The GLI3 gene is associated with a rare condition called acrocallosal syndrome. This gene is listed on the Pallister-Hall syndrome gene list. Several scientific articles and resources have targeted the GLI3 gene as a possible factor in the development of…
The TK2-related mitochondrial DNA depletion syndrome myopathic form is a rare genetic condition characterized by a severe reduction in the amount of mitochondrial DNA (mtDNA) in affected cells. This condition is caused by mutations in the TK2 gene, which provides…
Laryngo-onycho-cutaneous syndrome is a rare genetic condition that is associated with defects of the larynx, nails, and skin. It is also known as LOCS syndrome. The condition is caused by mutations in the GAN gene, which is responsible for the…
The EDARADD gene, also known as the Wohlfart-Lugan syndrome, is responsible for a rare genetic disorder called ectodermal dysplasia with ectrodactyly and syndactyly. The EDARADD gene is located on chromosome 1q42.2 and encodes a protein that plays a crucial role…
The LPAR6 gene, also known as Lysophosphatidic acid receptor 6, is one of the genes that are responsible for regulating the production and function of lysophosphatidic acid (LPA). LPA is a type of lipid molecule that plays a crucial role…
Familial encephalopathy with neuroserpin inclusion bodies is a rare genetic condition characterized by the presence of inclusion bodies in the brain. The condition is caused by mutations in the neuroserpin gene, which is responsible for producing a protein that regulates…
The YWHAE gene, also known as tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide, is a gene that is listed in the Online Mendelian Inheritance in Man (OMIM) database. It provides information on the gene’s function, associated disorders and conditions, and…