FUCA1

The protein corresponding to the gene FUCA1 is alpha-L-fucosidase 1. It is also commonly known as FUCA. This enzyme plays a vital role in hydrolyzing the terminal, non-reducing alpha-L-fucose residues from fucoside-containing substrates. It is involved in the lysosomal degradation of fucose-containing glycoproteins and glycolipids. The RAS signaling pathway is one of its associated pathways.
Mutations in the FUCA1 gene can lead to fucosidosis, a rare autosomal - recessive lysosomal storage disease. In terms of drug development, research is ongoing to find effective therapies, including enzyme replacement therapy, to address the enzyme deficiency caused by FUCA1 mutations.