Spastic Paraplegia Type 4 (SPG4) is a rare hereditary condition that is characterized by progressive weakness and stiffness of the legs, also known as paraplegia. It is one of the more common types of hereditary spastic paraplegias, which are a…
DES gene, also known as desmin gene, is responsible for the production of a protein called desmin. Desmin is primarily found in the myofibrils, which are the contractile units of muscle cells. It provides structural support and helps to maintain…
The RYR1 gene, also known as the centronuclear gene, plays a crucial role in the development and function of muscle cells. It is associated with various rare conditions related to muscle disorders, such as centronuclear myopathy and multiminicore disease. These…
The RB1 gene, also known as the retinoblastoma gene, has been extensively studied and researched due to its crucial role in cell cycle regulation and tumor suppression. Mutations or changes in this gene have been identified in various cancers, including…
FKBP14 gene is a rare genetic variant that has been associated with a variety of syndromes and conditions related to genetic changes. It is listed in the scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, where…
The PTS gene provides instructions for making an enzyme called 6-pyruvoyltetrahydropterin synthase. This enzyme is involved in the production of a molecule called tetrahydrobiopterin (BH4), which is essential for the normal function of several enzymes in the body. A deficiency…
Distal myopathy 2, also known as Welander distal myopathy, is a rare genetic condition characterized by muscle weakness and wasting, especially in the distal muscles of the hands and feet. It is inherited in an autosomal dominant manner, which means…
The DYSF gene is a genetic condition that is associated with various muscular dystrophy-related diseases. The gene is also known as dysferlin and is responsible for producing a protein that plays a crucial role in muscle membrane repair and regeneration.…
Bare lymphocyte syndrome type I is a rare genetic condition associated with a deficiency in HLA class I molecules. HLA class I molecules play a key role in the immune system, helping the body recognize and destroy foreign substances. Without…
The IKBKG gene, also known as the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma, is a crucial gene involved in the immune pathway. Mutations in this gene have been found to cause a range of disorders,…