The D2HGDH gene, also known as the D-2-hydroxyglutaric aciduria gene, is responsible for encoding an enzyme called D-2-hydroxyglutarate dehydrogenase. This gene is listed under the name “D2HGDH” in various genetic resources and databases, such as OMIM and the GeneTests registry.…
The NDP gene plays a crucial role in the vitreoretinopathy condition, a primary gene found in the retina. It is related to the norrin and other familial proteins, causing changes in the normal function of the vitreous and retinal receptors.…
The FOXF1 gene is a genetic variant that has been shown to be associated with various diseases and health conditions. It is primarily known for its role in pulmonary vein misalignment and alveolar capillary dysplasia with misalignment of pulmonary veins…
The ABL1 gene, also known as tyrosine-protein kinase ABL1, is a gene that is found in humans and is located on chromosome 9. It belongs to a group of genes that encode the ABL1 protein, which plays a key role…
Autosomal Dominant Vitreoretinochoroidopathy (ADVR) is a rare genetic condition that affects the retina, vitreous, and choroid. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to…
Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disease that primarily affects the joints. In this article, we will explore the genetic factors associated with RA, including the genes involved and their inheritance patterns. Recent studies have identified several genes…
The FAM126A gene plays a crucial role in the development and maintenance of myelin, the fatty substance that surrounds and protects nerve fibers. Myelin is essential for the proper function of the nervous system. However, mutations in the FAM126A gene…
KIF7 gene The KIF7 gene, also known as Kinesin Family Member 7, is an essential gene that plays a crucial role in embryonic development. Mutations in this gene have been associated with a variety of developmental disorders and syndromes. One…
Spastic paraplegia type 15 (SPG15) is a rare genetic condition that affects the muscles in the legs, leading to a progressive impairment in walking. This scientific term is used to describe a specific type of spastic paraplegia, which is characterized…
Chromosome 4 is one of the 23 pairs of chromosomes in humans. It is known as one of the autosomes, or non-sex chromosomes, which means it is present in both males and females. Chromosome 4 is a relatively large chromosome,…