CHIT1 Chromosome 1
Chitinase 1
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What This Gene Does
Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]
Gene Info
Gene Group
Chitinases
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000133063
Associated Conditions (5)
Chitotriosidase deficiency
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
Lung cancer
Cervical cancer
Key Variants
RS1052967197
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS1065761
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS113204979
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS114168492
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS116389839
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS117678693
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS12562058
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS137852607
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS138767766
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS139891908
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS139939985
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
RS140228721
Conflicting classifications of pathogenicity
Chitotriosidase deficiency, Chitotriosidase deficiency
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS752379824 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS753899130 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS757305430 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS765975898 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS768505099 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS771422197 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS773126401 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS778655930 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS780037348 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS780332677 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |
| RS886045833 | Health Risk | Conflicting classifications of pathogenicity | Chitotriosidase deficiency, Chitotriosidase deficiency |