The IFT80 gene is associated with various genetic diseases and conditions. It is related to the transport of proteins within cells and plays a crucial role in cellular signaling. Mutations in this gene have been linked to several health conditions,…
The MLPH gene, also known as the melanophilin gene, is responsible for encoding a protein involved in the transport of melanosomes – the pigment-containing organelles – in cells. Mutations in this gene can lead to various changes in hair color…
Gestational diabetes is a condition discovered during pregnancy. It is caused by a combination of genetic and lifestyle factors. According to clinicaltrialsgov, some articles suggest an association between genetic variants and the development of gestational diabetes. Inherited gene variants involved…
The FRMD7 gene, also known as FERM domain containing 7, is a genet that codes for a protein involved in the function of the retina. It is primarily associated with the development of congenital nystagmus, an eye movement disorder that…
The GUCY2D gene, also known as the retinal guanylate cyclase 1 (RETGC1) gene, is responsible for coding an enzyme that plays a crucial role in the visual system. Mutations in this gene have been associated with several inherited retinal conditions,…
The LDLR gene, also known as low-density lipoprotein receptor gene, is a crucial genetic component in the regulation of cholesterol levels in the body. It plays a major role in removing low-density lipoproteins (LDLs), commonly known as “bad” cholesterol, from…
Mannose-binding lectin deficiency, also known as MBL deficiency, is a rare genetic condition characterized by decreased levels or complete absence of a protein called mannose-binding lectin (MBL). MBL is an important part of the immune system and plays a role…
The APOB gene, also known as the apolipoprotein B gene, is a gene that is responsible for producing a protein called apolipoprotein B. This protein plays a crucial role in the transportation of fats in the bloodstream. Mutations in the…
Thrombotic Thrombocytopenic Purpura (TTP) is a rare genetic disorder that affects the normal functioning of the blood clotting process. It is characterized by the formation of small blood clots throughout the body, leading to a decrease in platelet levels, known…
Congenital bile acid synthesis defect type 2, also known as Δ4-3-oxosteroid 5β-reductase deficiency, is a rare genetic condition associated with the inability to synthesize bile acids. Bile acids are important for the absorption of fats in the body. This defect…