B3GALT2


B3GALT2: A Key Enzyme in Human Health

Description

B3GALT2 (beta-1,3-galactosyltransferase 2) is an enzyme involved in the synthesis of glycoproteins, which are complex molecules composed of proteins and carbohydrates. Glycoproteins play essential roles in various cellular processes, including cell-cell communication, immune responses, and cell signaling. B3GALT2 is specifically responsible for the addition of galactose, a type of sugar, to the sugar chains attached to these glycoproteins.

Associated Diseases

Mutations in the B3GALT2 gene have been linked to several inherited disorders, including:

  • Familial dysautonomia: A rare genetic disorder characterized by a lack of certain reflexes, autonomic dysfunction, and feeding difficulties.
  • Congenital muscular dystrophy type 1D: A severe muscle-weakening disease that affects newborns.
  • EIEE2 (Early Infantile Epileptic Encephalopathy, Type 2): A rare epileptic disorder that results in severe developmental delays and seizures.
  • Congenital hydrocephalus: An accumulation of fluid in the brain that can lead to increased head size and developmental problems.

Did you Know ?

Approximately 1 in 25,000 people worldwide are affected by familial dysautonomia, the most common disorder associated with B3GALT2 mutations.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.