COL11A1 wt Allele

Preferred Label : COL11A1 wt Allele;

NCIt synonyms : Collagen, Type XI, Alpha 1 wt Allele; STL2; COLL6; CO11A1;

NCIt definition : Human COL11A1 wild-type allele is located in the vicinity of 1p21 and is approximately 232 kb in length. This allele, which encodes collagen alpha-1(XI) chain protein, plays a role in modulation of cartilage structure. Mutations in the gene are associated with both Stickler syndrome type 2 and Marshall syndrome.;

GenBank Accession Number : J04177;

Details

Origin ID

C75314;

UMLS CUI

C2698736;

OMIM relation
- Collagen, type XI, alpha-1 [OMIM gene]
See also inter- (CISMeF)
- Stickler syndrome, type II [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p21 [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Movement [NCIt concept]
- Cell-Matrix Adhesion Process [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Wound Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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