The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
1.81 (Driver)
Recurrently deleted in 5 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.00
Overall
Tissue specific
Total fusion occurrence:
1
Fusions detected in 1 cancer type(s)
Overall
Tissue specific
Functional class:
Enzyme
JensenLab PubMed score:
210.12 (Percentile rank: 82.29%)
PubTator score:
125.90 (Percentile rank: 80.74%)
Target development/druggability level:
TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
Tractability (small molecule):
Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
Tractability (antibody):
Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted
