22q11.2 Duplication is a rare genetic condition associated with the duplication of a specific region of DNA on chromosome 22. It is also known as Duplication 22q11.2 or 22q11.2 Duplication Syndrome. This duplication can lead to a wide range of…
The SOX9 gene is a key player in the development of various genetic conditions and diseases. It is associated with the Campomelic Dysplasia, a rare disorder in which affected individuals exhibit skeletal abnormalities and sex reversal. This gene also plays…
The DOLK gene is one of the many genes cataloged in various databases such as PubMed and OMIM. It codes for the production of the enzyme Dolichol Kinase, which is involved in the process of protein glycosylation. Protein glycosylation is…
The LCT gene, also known as the lactase gene, is responsible for producing the enzyme lactase. Lactase is essential for the digestion of lactose, a sugar found in milk and dairy products. Variations in the LCT gene can lead to…
Gordon Holmes Syndrome, also known as hypogonadotropic hypogonadism and cerebellar ataxia, is a rare neurological disorder that is associated with impairments in the growth and development of certain cells in the body. This condition is believed to be caused by…
When it comes to the formation of fingerprints, genetics plays a significant role. Scientific articles and studies have shown that the unique patterns on our fingertips are largely determined by our genetic makeup. One of the key genes that has…
The CISD2 gene, also known as the Wolfram syndrome 2 protein, is a gene that is related to several genetic diseases. The gene is listed in various resources such as the PubMed, the Catalog of Somatic Mutations in Cancer (COSMIC),…
Primary localized cutaneous amyloidosis is a rare skin condition characterized by the deposition of amyloid proteins in the skin. The disease usually affects adults and presents as macular or nodular lesions on the skin. These lesions are typically accompanied by…
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder that is characterized by the development of noncancerous tumors called hamartomas. Although this condition is rare, studies have shown that it is often associated with additional genetic abnormalities and can have a…
The COL3A1 gene is responsible for the production of a protein called collagen type III alpha 1 chain. Collagen is a major component of connective tissues, including the skin, blood vessels, and organs. Mutations in the COL3A1 gene can result…