Aliases for CHIT1 Gene
External Ids for CHIT1 Gene
Previous GeneCards Identifiers for CHIT1 Gene
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]
GeneCards Summary for CHIT1 Gene
CHIT1 (Chitinase 1) is a Protein Coding gene. Diseases associated with CHIT1 include Chitotriosidase Deficiency and Gaucher Disease, Type I. Among its related pathways are Metabolism and Immune System. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and chitinase activity. An important paralog of this gene is CHIA.
UniProtKB/Swiss-Prot for CHIT1 Gene
Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.