CHIT1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | chitinase 1 |
| EntrezGene | 1118 |
| PheGenI | 1118 |
| VariationViewer | 1118 |
| ClinVar | CHIT1 |
| GeneCards | CHIT1 |
| dbSNP | 1118 |
| Diseases | CHIT1 |
| SADR | 1118 |
| HugeNav | 1118 |
| wikipedia | CHIT1 |
| CHIT1 | |
| gopubmed | CHIT1 |
| EVS | CHIT1 |
| HEFalMp | CHIT1 |
| MyGene2 | CHIT1 |
| 23andMe | CHIT1 |
| UniProt | Q13231 |
| Ensembl | ENSG00000133063 |
| OMIM | 600031 |
| # SNPs | 4 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs137852607 | 0 | 203,225,706 | |
| rs2297950 | 0 | 203,225,058 | Polymorphism in AA102 of chitotriosidase (CHIT1) |
| rs3831317 | 0 | 203,217,846 | |
| rs9943208 | 0 | 203,217,835 |
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).
