FUT8
Function
Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.
Involvement in disease
Congenital disorder of glycosylation with defective fucosylation 1
CDGF1
A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein glycosylation.
Post-translational modifications
Tyrosine phosphorylated by PKDCC/VLK.
Sequence Similarities
Belongs to the glycosyltransferase 23 family.
Cellular localization
- Golgi apparatus
- Golgi stack membrane
- Single-pass type II membrane protein
- Membrane-bound form in trans cisternae of Golgi.
Alternative names
Alpha1-6FucT, Fucosyltransferase 8, GDP-fucose--glycoprotein fucosyltransferase, Glycoprotein 6-alpha-L-fucosyltransferase, FUT8