Miyoshi myopathy Miyoshi myopathy is a rare genetic muscle disorder characterized by progressive muscle weakness and atrophy, especially in the calves. It belongs to a group of muscle conditions called dysferlinopathies, which are caused by mutations in the dysferlin gene.…
The NEB gene, also known as nemaline myopathy 2 (nem2), is a gene that plays a crucial role in muscle function. It is responsible for the production of a protein called nebulin, which is essential for the proper functioning of…
Ovarian cancer is one of the most deadly gynecological cancers and has a high mortality rate. The ovaries, which are located in the lower abdomen of a woman, are responsible for producing eggs and the female hormones estrogen and progesterone.…
The FAH gene is responsible for encoding the enzyme fumarylacetoacetate hydrolase, which is crucial for the breakdown of the amino acid tyrosine. Mutations in this gene can lead to a number of health issues, such as tyrosinemia type I. There…
Biotinidase deficiency is a rare genetic condition that affects the body’s ability to process biotin, a vitamin essential for the breakdown of certain substances in the body. This condition is inherited in an autosomal recessive manner, meaning that individuals must…
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a progressive neurodegenerative condition that affects the coordination of voluntary movements. It is associated with the degeneration of the Purkinje cells in the cerebellum, the part of the brain that plays a…
The CALR gene, or calreticulin gene, is related to the regulation of cell structure and function. It has been cataloged in various scientific databases, including OMIM and PubMed. The CALR gene is known to play a role in several diseases,…
The POLR3A gene, also known as Polymerase (RNA) III Subunit A, is one of the subunits of the RNA polymerase III complex. This complex is responsible for the transcription process, which is the synthesis of RNA from DNA. The POLR3A…
The APP gene, short for Amyloid Precursor Protein gene, is a key player in several neurodegenerative conditions, including Alzheimer’s disease. This gene is found in humans and is responsible for encoding the amyloid precursor protein (APP), a protein involved in…
The ABCA12 gene is one of the many genes associated with various conditions. It plays a crucial role in the transport of lipids and related genetic abnormalities. Mutations in this gene can cause a range of congenital diseases, such as…