Expert

Expert

SUOX gene

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…

GFAP gene

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…

SLC20A2 gene

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…

PEX1 gene

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…

SLITRK1 gene

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…

MANBA gene

The MANBA gene is a gene that is responsible for the production of the enzyme beta-mannosidase. This enzyme plays a crucial role in breaking down complex sugars in the body. The information about this gene and its associated health conditions…

Genetic Conditions L

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…

What is genetic testing

Genetic testing is a whole range of tests conducted to analyze a person’s DNA, particularly their genome. This form of testing provides valuable information about an individual’s genetic makeup and can be utilized for a variety of purposes, including identifying…

Genes X

The field of genetics has made significant progress in recent years, with the discovery of numerous genes that play crucial roles in various biological processes. One such group of genes, known as Genes X, has attracted considerable attention from scientists…