Glycogen storage disease type IX, also known as glycogenosis type IX, is a rare genetic disorder that affects the way glycogen, a form of stored glucose, is produced and broken down in the body. It is caused by mutations in…
The FRAS1 gene is a catalog of genetic changes related to Fraser syndrome, a congenital disorder characterized by cryptophthalmos (abnormal development of the eyelids), coloboma (a defect in the structure of the eye), and renal anomalies (abnormalities in the kidneys…
The ZAP70 gene, also known as Zeta-chain-associated protein 70, is a gene that plays a crucial role in the functioning of the immune system. It is responsible for encoding a protein called ZAP70, which is essential for the activation of…
The SLC2A10 gene is a genetic transporter that is involved in the development and maintenance of the arterial system. It plays a crucial role in the growth and tortuosity of arteries in the body. Mutations in this gene have been…
The GPI gene, also known as glucose-6-phosphate isomerase, is an important molecule in the context of genetic disorders. When this gene is broken or changes, it can result in chronic health problems. According to PubMed, deficiencies in GPI gene can…
The WNK1 gene is associated with a variety of genetic conditions, including hereditary sensory neuropathy type 2 (HSN2). This gene plays an important role in the regulation of sodium and chloride reabsorption in the body. Variations in the WNK1 gene…
The CLCNKB gene is an important gene associated with various kidney-related disorders. It plays a crucial role in the regulation of kidney function, specifically in the reabsorption of chloride ions. Changes or mutations in this gene can lead to the…
The FBLN5 gene belongs to the fibulin protein family, which is involved in the development and maintenance of connective tissues. Fibulin-5, the protein encoded by FBLN5 gene, plays a crucial role in the elastic fiber assembly process by interacting with…
Burn-McKeown syndrome, also known as Nasal Fingerprint Syndrome or Gillessen-Kaesbach-Wieczorek syndrome, is a rare genetic condition that affects the heart, nasal structure, and other parts of the body. It is caused by mutations in the TXNL4A gene, which is involved…
The UCHL1 gene is a genetic variant associated with Parkinson’s disease. This gene has been extensively studied in scientific research and is listed in various databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. It plays a crucial…