B3GALT4
b3galt4: Gene, Associated Diseases, and Latest Research
Description
b3galt4, also known as UDP-Galactose:BetaGlcNAc Beta 1,3-Galactosyltransferase 4, is a gene that provides instructions for producing an enzyme called b3galt4. This enzyme plays a crucial role in the glycosylation process, which involves adding sugar molecules (glycans) to proteins. b3galt4 specifically adds a particular type of sugar chain, called N-acetyllactosamine, to the surface of proteins.
Associated Diseases
Mutations in the b3galt4 gene have been linked to several congenital disorders of glycosylation (CDGs), a group of rare genetic conditions that affect the glycosylation process. The most common b3galt4-related CDG is known as GM1 gangliosidosis type 2 (GM1G2):
- GM1 Gangliosidosis Type 2 (GM1G2): This severe neurological disorder is caused by a deficiency of the b3galt4 enzyme, leading to the accumulation of GM1 ganglioside in the brain and spinal cord. Symptoms typically appear in infancy and include developmental delays, seizures, and progressive neurological deterioration.
Did you Know ?
According to the National Institute of Health (NIH), the incidence of GM1G2 is estimated to be around 1 in 100,000 to 200,000 live births. This rare condition affects both males and females equally.
