Gene: CHIT1

Alternate names for this Gene: CHI3|CHIT|CHITD

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: chitinase 1

Type of Gene: protein-coding

rs73068228 in CHIT1 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.