DISEASES

Disease-gene associations mined from literature

Literature associating CHIT1 and Niemann-Pick disease type A

CHIT1 [ENSP00000356198]

Chitotriosidase-1; Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity.

Synonyms:  CHIT1,  CHIT1p,  hCHIT1,  D6REY1,  Q13231 ...

Linkouts:  STRING  Pharos  UniProt  OMIM