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Gene : CHIT1 Homo sapiens

Name  ? chitinase 1 Cytological Location  1q32.1
Brief Description  chitinase 1
Description  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]
  • synonyms:
  • CHITD,
  • CHIT,
  • uc001gzn.3,
  • U29615,
  • chitinase 1 (chitotriosidase),
  • CHIT,
  • CHIT1,
  • CHI3,
  • CHI3,
  • NM_003465,
  • OTTHUMG00000042126,
  • chitotriosidase,
  • HGNC:1936
  • identifiers:
  • 1118,
  • ENSG00000133063,
  • CHIT1

Genome feature

Region: gene ? Length: 13595  
Location: 1:203216079-203229673 reverse strand Cyto location: 1q32.1


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

327 SN Ps

5 Cross References

19 Data Sets

26 Homologues

0 Located Features

97 Rna Seq Results