This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.
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Protein Aliases: clone 165; cytosolic sialic acid 9-O-acetylesterase homolog; H-Lse; Sialate O-acetylesterase; Sialate O-acetylesterase large subunit; Sialate O-acetylesterase small subunit; Sialic acid-specific 9-O-acetylesterase; sialic acid-specific acetylesterase II; yolk sac gene 2; Yolk sac protein 2
Gene Aliases: AIS6; CSE-C; CSEC; LSE; RGD1310431; SIAE; YSG2