The RAB3GAP2 gene, also known as RAB18 non-catalytic protein, is a key player in the regulation of intracellular transport and membrane fusion. This gene is found on chromosome 1 and codes for a protein that acts as a GTPase-activating protein…
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…
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 MEOX1 gene, also known as the mesenchyme homeobox 1 gene, is a gene that plays a crucial role in the development of various tissues in the body. It is located on chromosome 17q21.32 and is involved in embryonic development.…
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…
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…
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 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…
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,…
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…