Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disease that affects the muscles. It is named after the muscles that are commonly affected – the face (facio), shoulder blades (scapulo), and upper arms (humeral). FSHD is caused by mutations in…
The KRT1 gene, also known as keratin 1, is a genetic variant that is typically related to skin disorders. This gene is responsible for producing the protein keratin, which is essential for maintaining the health of the skin. Epidermolytic hyperkeratosis,…
Trichothiodystrophy (TTD) is a rare genetic condition associated with photosensitive skin, poor hair growth, intellectual disability and other clinical features. It is caused by mutations in genes involved in DNA repair and transcription, such as ERCC2 and GTF2H5. TTD has…
The MECP2 gene, also known as the methyl-CpG-binding protein 2 gene, is involved in many different disorders and conditions. It is a gene that is located on the X chromosome and has been characterized and listed in scientific databases for…
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 MBD5 gene plays a crucial role in genetic disorders and neurodevelopmental conditions. It encodes for a protein that is part of the methyl-CpG-binding domain family. The MBD5 protein specifically binds to methylated DNA, which is important for gene regulation.…
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 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…
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…