Gene Symbol | SIAE |
Entrez Gene ID | 54414 |
Full Name | sialic acid acetylesterase |
Synonyms | AIS6,CSE-C,CSEC,LSE,YSG2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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.[provided by RefSeq, Feb 2011]. |
Disorder MIM: | |
Disorder Html: | {Autoimmune disease, susceptibility to, 6}, 613551 (3) |