Gene: SIAE

Alternate names for this Gene: AIS6|CSE-C|CSEC|LSE|YSG2

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q24.2

Description of this Gene: sialic acid acetylesterase

Type of Gene: protein-coding

rs143070599 in SIAE gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 20555325 2010 Functionally defective germline variants of sialic acid acetylesterase in autoimmunity.

rs12282107 in SIAE gene and Serum albumin measurement PMID 24625756 2014 Genetic determinants influencing human serum metabolome among African Americans.