Troyer syndrome, also known as SPG20, is a rare genetic condition that affects the function of muscles in the lower limbs. It is associated with pure spasticity, a condition characterized by muscle stiffness and involuntary muscle contractions. The syndrome is…
Fragile X syndrome (FXS) is a rare genetic disorder that affects both males and females. It is caused by changes in the FMR1 gene on the X chromosome. The FMR1 gene provides instructions for making a protein called fragile X…
Chromosome 13 is one of the 23 pairs of chromosomes in humans. It is a genetic cluster of DNA that contains important information related to health and development. Located on the short arm of chromosome 13 at position 13q12.3 is…
The IL31RA gene, also known as interleukin-31 receptor A gene, is a protein-coding gene that is primarily associated with cutaneous amyloidosis. It is listed in various genetic databases such as OMIM and the IL31RA gene catalog. This gene encodes for…
The IL7R gene, also known as interleukin-7 receptor, is involved in multiple severe immunodeficiency disorders. Mutations in this gene have been found to be associated with Omenn syndrome, a condition characterized by early-onset recurrent infections, severe combined immunodeficiency, and thymic…
The PPP2R5D gene is one of the genes involved in the development and regulation of various cellular processes. Mutations in the PPP2R5D gene have been found to be associated with specific conditions and diseases, such as intellectual disability and other…
The COMP gene, also known as cartilage oligomeric matrix protein, plays a significant role in various genetic diseases related to skeletal dysplasia. This gene is listed in scientific databases such as PubMed and OMIM, providing valuable information about its genetic…
The EDA gene is a variant of genes that is associated with various diseases and conditions. It plays a significant role in the development and functioning of different tissues and organs in the body. Specifically, this gene is involved in…
The TGFBR1 gene, also known as Transforming Growth Factor Beta Receptor 1, is an important gene that plays a crucial role in various biological processes. It is listed in numerous databases and scientific articles, making it the subject of intensive…
The ACAD8 gene, also known as isobutyryl-CoA dehydrogenase deficiency, is a gene that is responsible for producing a protein called isobutyryl-CoA dehydrogenase. This protein plays a vital role in breaking down isobutyryl-CoA, a molecule that is involved in the metabolism…