XB-FEAT-5940578: Difference between revisions
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=fuca1= | =fuca1= | ||
This is the community wiki page for the gene ''fuca1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | This is the community wiki page for the gene ''fuca1'' please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. | ||
1.17.20 entrez ID changed from 100497659 (not in current annotation release) to 548577 | |||
=nomenclature changes= | =nomenclature changes= | ||
Revision as of 12:26, 17 January 2020
fuca1
This is the community wiki page for the gene fuca1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase. 1.17.20 entrez ID changed from 100497659 (not in current annotation release) to 548577
nomenclature changes
06/26/2017
Human name has changed for Entrez Gene: 2517. From fucosidase, alpha-L- 1, tissue to alpha-L-fucosidase 1
summary from NCBI
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]