Xeroderma pigmentosum (XP) is a rare genetic condition characterized by extreme sensitivity to ultraviolet (UV) radiation from sunlight. Individuals with XP have a deficiency in their body’s ability to repair damage to the DNA in skin cells caused by UV…
The CYP7B1 gene is a gene that is listed in the Human Gene Mutation Database (HGMD) as a type of cytochrome P450 enzyme. This gene is associated with a condition known as spastic paraplegia, which is characterized by weakness and…
The POMT1 gene is an early health gene that is listed in various databases such as OMIM. It is involved in the testing and diagnosis of various disorders that result from a damaged POMT1 gene. These disorders often present with…
The SLC22A5 gene, also known as cationcarnitine transporter 2 (OCTN2) gene, provides instructions for making a protein that is involved in the transport of organic cations, including carnitine. Carnitine is an essential molecule for the transport of fatty acids into…
Congenital hepatic fibrosis (CHF) is a rare genetic condition that affects the development of the liver and gallbladder. It is characterized by the presence of abnormal fibrous tissue in these organs, which can lead to various complications. Research on CHF…
The TP53 gene, also known as the tumor protein 53, is a key gene involved in the control of the cell cycle and the prevention of cancerous growth. Mutations in this gene have been found in various types of cancer,…
The G6PC gene is associated with glycogen storage disease type Ia (GSDIA). GSDIA is a genetic disease that affects the storage of glycogen, a form of glucose, in the body. It is listed in the OMIM database, which contains information…
Yuan-Harel-Lupski syndrome, also known as Potocki-Lupski syndrome, is a rare genetic disorder caused by duplications in a specific region of chromosome 17. This syndrome is named after the three scientists who first identified and described it: Dr. Claudia M. B.…
Enlarged parietal foramina, also known as foramen parietal occultum, is a rare genetic condition. It is inherited in an autosomal dominant manner, meaning that individuals with one copy of the mutated gene have a 50% chance of passing the condition…
Mucolipidosis III gamma, also known as Raas-Rothschild syndrome, is a rare autosomal recessive lysosomal storage disorder. This condition is caused by mutations in the gene GNPTG, which is associated with the protein N-acetylglucosamine-1-phosphate transferase gamma subunit. Mucolipidosis III gamma is…