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
