CHIT1 wt Allele

Preferred Label : CHIT1 wt Allele;

NCIt synonyms : CHI3; CHIT; CHITD; Chitinase 1 (Chitotriosidase) wt Allele; Chitinase, Macrophage Gene;

NCIt definition : Human CHIT1 wild-type allele is located in the vicinity of 1q32.1 and is approximately 61 kb in length. This allele, which encodes chitotriosidase-1 protein, plays a role in the metabolism of chitins. This gene is associated with Gaucher disease.;

GenBank Accession Number : U29615;

Details

Origin ID

C120052;

UMLS CUI

C3889440;

Automatic exact mappings (from CISMeF team)
- Chitinase 1 [OMIM gene]
- Chitotriosidase deficiency [OMIM Phenotype]
- chin [MeSH Descriptor]
OMIM relation
- Chitinase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q32.1 [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Antimicrobial Effect [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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