Chitotriosidase 1

From Anvita Health Wiki

Contents 1 Function 2 Compartment 3 Alternative-splicing 4 Expression 5 Pathology 6 Polymorphism 7 More General Terms 8 Internet Database 9 References

Function

• degrades chitin & chitotriose
• role in defense against nematodes & other pathogens
• isoform 3 has no enzymatic activity
• random hydrolysis of N- acetyl-beta-D-glucosaminide 1,4-beta- linkages in chitin & chitodextrins

Compartment

• secreted, lysosome (small %)

Alternative-splicing

• named isoforms=3

Expression

• expressed in spleen, secreted by cultured macrophages

Pathology

• very high plasma levels of CHIT1 are found in patients with Gaucher disease type 1

Polymorphism

• duplication of 24 bp in exon 10 leads to the use of a cryptic splice site

• the normal splice site is still present, but not used
• results in production of an inactive protein

• about 6% of the population are deficient for CHIT1 activity
• 35% are carriers & show reduced enzyme levels
• people with CHIT1 deficiency appear perfectly healthy

More General Terms

• glycosidase (glycoside hydrolase)

Internet Database

OMIM: 600031
Prosite: [1]
UniProt: [2]

References

UniProt [3]

chitotriosidase-1 (chitinase-1, CHIT1)