GBGT1

Description

The GBGT1 (globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)) is a protein-coding gene located on chromosome 9.

The GBGT1 gene encodes a glycosyltransferase enzyme involved in the synthesis of complex carbohydrates. It belongs to the histo-blood group ABO gene family, which produces enzymes with similar but distinct functions. GBGT1 specifically helps in the production of Forssman glycolipid (FG), a member of the globoseries glycolipid family. While human cells normally don't produce FG, they do produce its precursor glycolipids. This enzyme may play a role in how certain pathogens attach to and infect human cells.

GBGT1 has lost the ability to synthesize Forssman glycolipid antigen (FORS1/FG). It may have acquired a different function in glycosphingolipid metabolism, but this is still being investigated. It has evolved more slowly than confirmed pseudogenes in the glycosyltransferase 6 family, indicating that it might still be under evolutionary pressure.

GBGT1 is also known as A3GALNT, FS, UNQ2513.

Associated Diseases

• isolated congenital hypogonadotropic hypogonadism
• 46,XX testicular disorder of sex development
• 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
• 46,XY complete gonadal dysgenesis
• partial chromosome Y deletion
• 46,XX ovotesticular disorder of sex development
• ring chromosome Y
• X-linked intellectual disability-macrocephaly-macroorchidism syndrome
• Leydig cell hypoplasia
• spermatogenic failure, X-linked, 2
• testicular agenesis
• familial adrenal hypoplasia with absent pituitary luteinizing hormone
• spinocerebellar ataxia type 32