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SIAE encodes an enzyme which removes 9-O-acetylation modifications from sialic acids.
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Sialate:O-acetyl esterase (show ESD ELISA Kits) is a catalytic regulator of B cell signaling and plays an essential role in the maintenance of immunological tolerance in the B lineage.
analysis of whether SIAE rare variants associated with phenotype of juvenile idiopathic arthritis (JIA) and autoimmunity risk in families with primary antibody deficiencies(PADS); 3 novel variants were found in patients with JIA and in their healthy relatives without autoimmunity; none of PAD (show PADI4 ELISA Kits) patients or their relatives had SIAE defects; results show SIAE rare variants are not causative of autoimmunity as single defects
Authors determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population
We found A467V SIAE variants (c.1400C>T, rs7941523) in a heterozygous state in all the patients with anti-PIT-1 antibody syndrome.
There is no evidence for SIAE genetic variants affecting patients with vitiligo (show MITF ELISA Kits).
SIAE may be associated with autoimmunity.
The analysis does not support a role for rare variants in SIAE in the pathogenesis of autoimmune Addison's disease.
SIAE variants play a role in primary biliary cirrhosis.
These studies demonstrate that both SIAE and SOAT activities seem to be responsible for the enhanced level of Neu5,9Ac(2) in lymphoblasts, which is a hallmark in acute lymphoblastic leukemia
SIAE expression is upregulated in placentas from pregnancies complicated by preeclampsia.
Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease.
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.
sialic acid acetylesterase
, cytosolic sialic acid 9-O-acetylesterase homolog
, sialate O-acetylesterase
, sialic acid-specific 9-O-acetylesterase
, sialate O-acetylesterase-like
, clone 165
, yolk sac gene 2
, yolk sac protein 2
, sialic acid-specific acetylesterase II