rs864309551
This is a variant in the FUCA1 gene that changes a tryptophan to an leucine.
▶ClinVar annotation
About FUCA1
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]
View all FUCA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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