The MMP14 gene, also known as membrane-type matrix metalloproteinase 14, is a genetic element that plays a crucial role in various diseases and cellular processes. This gene is involved in tissue remodeling, and its mutations have been linked to several…
The HCN4 gene, also known as the hyperpolarization activated cyclic nucleotide-gated channel 4 gene, is a gene that plays a crucial role in the functioning of the heart. It encodes a protein that forms a voltage-gated ion channel involved in…
The RIT1 gene is a gene that encodes for a small GTPase protein, which is involved in cellular processes such as signal transduction and protein transport. It is found to be highly expressed in lung tissues and has been associated…
The X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) syndrome is a rare primary immunodeficiency disorder. It is caused by a deficiency in the MAGT1 gene, which is located on the X chromosome. This condition primarily affects…
The CHRNA4 gene, also known as the alpha-4 subunit of the nicotinic acetylcholine receptor, is a gene that encodes for a protein involved in the functioning of neurotransmitter receptors. This gene has been found to be associated with several neurological…
Raynaud phenomenon is a condition that affects the blood vessels in the fingers, toes, ears, and nose. It is characterized by episodes of vasospasm, which is a sudden narrowing of the blood vessels. This causes a decrease in blood flow…
Heritability is a term used in genetics to describe the proportion of observed variability in a trait that can be attributed to genetic factors. It is often expressed as a number between 0 and 1, representing the proportion of variability…
The CCBE1 gene is a variant of the Schulte-Merker gene. It has been extensively studied and documented in scientific articles listed on PubMed. Resources like the Registry of Research on Genetic Mutations (RRGM) and Genet-Names have also catalogued information about…
CRPPA gene The CRPPA gene is a variant of the genet that is related to several scientific conditions, including muscular dystrophy and limb-girdle muscular dystrophy. Mutations in this gene are known to cause additional conditions, including the Walker-Warburg syndrome. Testing…
The SI gene encodes the enzyme sucrase-isomaltase, which is responsible for breaking down the disaccharides sucrose and isomaltose into simpler sugars. These changes in gene result in congenital sucrose-isomaltase deficiency, a rare genetic disorder that affects the normal function of…