CHIT1 Chromosome 1

Chitinase 1
61 variants 61 Health Risk

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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
RS1052967197 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1065761 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS113204979 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS114168492 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS116389839 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS117678693 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS12562058 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS137852607 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS138767766 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS139891908 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS139939985 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS140228721 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS140770731 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS141079733 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS143138885 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS143254493 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS144422918 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS145366738 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS146692911 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Malignant tumor of esophagus, Ovarian serous cystadenocarcinoma
RS150370762 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS150852382 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS151004649 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1657010162 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS182143561 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS183706407 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS186594769 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS190551025 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS193156676 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS200630872 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS200777680 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS201180236 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS202003206 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS2275533 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS2297947 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Malignant tumor of esophagus, Cervical cancer
RS367900575 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS367910344 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS368307246 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS368377960 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS369795637 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS371464440 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS372798323 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS372939622 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS374021722 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS374580719 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS377403883 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS538252193 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS560698644 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS569180795 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS73066396 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS73066400 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
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