The EMD gene, also known as emerin, is a gene that plays a crucial role in the regulation of various cellular functions. Mutations in this gene have been linked to Emery-Dreifuss muscular dystrophy, a genetic condition characterized by muscle wasting…
The ZNF341 gene is an autosomal dominant variant that has been associated with various genetic conditions. It has been identified as a potential cause for several syndromes and diseases, including hyper-IgE syndrome, PUEL syndrome, and other immunological disorders. This gene…
The CACNA1S gene, also known as the L-type calcium channel alpha 1 subunit, is responsible for encoding a protein that forms calcium channels in skeletal muscles. These channels play a crucial role in muscle contraction and relaxation. Mutations in the…
Langer mesomelic dysplasia is a rare genetic condition that affects the growth of bones in the legs and arms. It is caused by mutations in the LMX1A gene, which is necessary for the normal development of the skeletal system. This…
The CIITA gene is involved in the regulation of immune responses and plays a critical role in the immune system. It encodes a class II major histocompatibility complex (MHC) transactivator protein. Mutations in this gene can lead to various autoimmune…
16p11.2 microdeletion syndrome is a genetic condition that is characterized by the deletion of a small section of chromosome 16 at position 11.2. This microdeletion is associated with a range of developmental and physical abnormalities in affected individuals. The condition…
The DHH gene, also known as desert hedgehog, is a gene that plays a critical role in the development and function of certain cells and tissues in the body. It is one of several genes that are associated with various…
The FGFR4 gene, also known as fibroblast growth factor receptor 4, is an important genetic component that plays a significant role in various diseases and conditions. It is listed in various genetic databases, including OMIM, and has been extensively studied…
Incontinentia pigmenti is a rare genetic condition that affects the development and pigmentation of the skin, teeth, hair, and nails. It is also known as Bloch-Sulzberger syndrome, after the doctors who first described it. Incontinentia pigmenti is caused by mutations…
Chromosomes are thread-like structures in the nucleus of our cells that contain genetic information in the form of DNA. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes. However, sometimes changes in the number of chromosomes…