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CHIT1

From SNPedia

is agene
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Full namechitinase 1
EntrezGene1118
PheGenI1118
VariationViewer1118
ClinVarCHIT1
dbSNP1118
SADR1118
HugeNav1118
wikipediaCHIT1
googleCHIT1
gopubmedCHIT1
EVSCHIT1
HEFalMpCHIT1
MyGene2CHIT1
23andMeCHIT1
UniProtQ13231
EnsemblENSG00000133063
OMIM600031
# SNPs4
 Max MagnitudeChromosome positionSummary
rs1378526070203,225,706
rs22979500203,225,058Polymorphism in AA102 of chitotriosidase (CHIT1)
rs3831317203,217,846
rs99432080203,217,835

Encoded by the CHIT1 gene, Chitinase 1 or chitotriosidase is an enzyme expressed in macrophages and involved in the breakdown of chitin, a polymer found in plant and other organism cell walls.

It is also used to diagnose and monitor Gaucher disease 1, a lysosomal storage disease, following treatment with enzyme replacement therapy for therapeutic response (levels drop when treated appropriately).