CHST3 wt Allele

Preferred Label : CHST3 wt Allele;

NCIt synonyms : C6ST; HSD; C6ST1; Carbohydrate (Chondroitin 6) Sulfotransferase 3 wt Allele;

NCIt definition : Human CHST3 wild-type allele is located in the vicinity of 10q22.1 and is approximately 49 kb in length. This allele, which encodes carbohydrate sulfotransferase 3 protein, plays a role in the metabolism of proteoglycans. Mutation of the gene is associated with spondyloepiphyseal dysplasia with congenital joint dislocations.;

GenBank Accession Number : AB017915;

Details

Origin ID

C116935;

UMLS CUI

C3890918;

Automatic exact mappings (from CISMeF team)
- Carbohydrate sulfotransferase 3 [OMIM gene]
- Spondyloepiphyseal dysplasia with congenital joint dislocations [OMIM Phenotype]
- carbohydrate sulfotransferase 3 [ORDO Gene]
OMIM relation
- Carbohydrate sulfotransferase 3 [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_is_element_in_pathway
- Glycosaminoglycan Biosynthesis Pathway - Chondroitin Sulfate [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Protein Metabolism Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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