Preferred Label : COL1A2 wt Allele;
NCIt synonyms : OI4; Collagen Type I Alpha 2 Chain wt Allele; COL1A2; Osteogenesis Imperfecta Type IV Gene; Collagen, Type I, Alpha 2 Gene; Collagen of Skin, Tendon and Bone, Alpha-2 Chain Gene; EDSCV; Collagen, Type I, Alpha-2 Gene; EDSARTH2;
NCIt definition : Human COL1A2 wild-type allele is located in the vicinity of 7q22.1 and is approximately
37 kb in length. This allele, which encodes collagen alpha-2 (I) chain protein, plays
a role in the structural integrity of tendons, ligaments and bones. Mutations in the
gene are associated with atypical Marfan syndrome, Ehlers-Danlos syndrome types and
osteogenesis imperfecta types.;
GenBank Accession Number : NM_000089;
Origin ID : C52480;
UMLS CUI : C1704811;
OMIM relation
- See also inter- (CISMeF)
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
