Gene Symbol | CHIT1 |
Entrez Gene ID | 1118 |
Full Name | chitinase 1 |
Synonyms | CHI3,CHIT,CHITD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | [Chitotriosidase deficiency], 614122 (3) |