Refsum disease, also known as Refsum syndrome or heredopathia atactica polyneuritiformis, is a rare genetic disorder. It is named after Sigvald Bernhard Refsum, the Norwegian neurologist who first described the condition in 1946. It is an autosomal recessive disorder, which…
The RNF216 gene, also known as Ring finger protein 216, is a ubiquitin-protein ligase gene. It is involved in the regulation of various biological processes and has been found to play a role in several diseases. Researches on the RNF216…
The MATR3 gene, also known as matrin 3, is a gene that provides instructions for making a protein called matrin 3. This gene is found on chromosome 5 and is involved in various cellular processes, including mRNA splicing, DNA repair,…
The GFAP gene, also known as the glial fibrillary acidic protein gene, is involved in the production of a protein called glial fibrillary acidic protein (GFAP). GFAP is one of the major structural proteins in the central nervous system and…
The SUOX gene, also known as sulfite oxidase gene, is responsible for producing the enzyme sulfite oxidase. This gene is crucial for metabolizing sulfite, a byproduct of various metabolic processes, into sulfate. Sulfite oxidase deficiency, caused by mutations in the…
The PEX1 gene, also known as peroxisomal biogenesis factor 1, is responsible for the production and functioning of peroxisomes in the human body. Peroxisomes are essential organelles involved in lipid metabolism and the detoxification of harmful substances. Mutations in the…
The SLC20A2 gene, also known as pit-2, is a primary gene associated with brain calcification. It is involved in the transport of calcium ions across cell membranes. Mutations in this gene can lead to changes in calcium metabolism, causing calcification-related…
The SLITRK1 gene is a gene that has been extensively studied in relation to Tourette syndrome. Tourette syndrome is a neurological disorder characterized by repetitive, involuntary movements and vocalizations, called tics. The SLITRK1 gene has been found to be involved…
When it comes to choosing a direct-to-consumer genetic testing company, there are several important factors to consider. With so many companies offering genetic testing services, it’s crucial to do your research and gather as much information as possible. One of…
This article provides an overview of several genetic conditions that begin with the letter L. These conditions are rare and often have serious implications for those affected. Some of the conditions include seelaryngo-onycho-cutaneous syndrome, t2-deficient lipofuscinosis, leukoencephalopathy with brainstem and…