FUCA1 across dismech

FUCA1 (alpha-L-fucosidase 1) is named by 2 disorder entries: the disease it causes and the class entry for the glycoproteinoses.

How the entries record the gene

Both entries type FUCA1 as causative (Fucosidosis; Glycoprotein Storage Disease), with germline variants in Fucosidosis (germline). No record is left untyped (0). ClinGen classifies FUCA1 for 1 disease, and for Fucosidosis its tier is definitive; the Fucosidosis entry records that assertion in its gene_disease_validity.

Where the gene sits in the pathograph

In Fucosidosis the gene is bound to the node FUCA1 alpha-L-fucosidase deficiency, which carries a decreased alpha-L-fucosidase activity in the lysosome and leads to lysosomal storage of fucose-rich glycoconjugates. The class entry Glycoprotein Storage Disease names FUCA1 on its shared node Lysosomal Glycosidase Deficiency and Impaired Glycoprotein Catabolism, which marks glycoprotein catabolic process as decreased.

Through that class node the gene reaches the lysosomal_substrate_accumulation module, and no treatment record names it (0).

Normal function

The ai-gene-review ingest layer currently reports 0 core function terms for FUCA1, because the ingest tables are pinned to an ai-gene-review commit that predates the review of this gene. The upstream review, written in the same round of work as this page, gives alpha-L-fucosidase activity in the lysosomal lumen, acting in glycoprotein and glycolipid catabolism, as the core function; removal of the core alpha1,6-fucose is what allows aspartylglucosaminidase (AGA) to complete N-glycoprotein degradation. Those terms will appear here once the ingest pin is advanced.