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 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 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 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 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…
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…
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 CRX gene, also known as Cone-rod homeobox gene, is a crucial gene associated with various retinal diseases and conditions. The gene was first identified and characterized in scientific literature, with several publications available on PubMed. The most cited article…
The EZH2 gene, also known as Enhancer of Zeste Homolog 2, is a protein-coding gene that plays a crucial role in the epigenetic regulation of gene expression. It is involved in the process of histone methylation, which can either activate…
The AAAS gene, also known as the achalasia-addisonianism-alacrima syndrome gene, codes for a protein that plays a crucial role in the nucleus of cells. This gene is associated with a rare genetic disorder called Achalasia-Addisonianism-Alacrima Syndrome (AAA syndrome) which is…