Preferred Label : COL2A1 wt Allele;
NCIt synonyms : AOM; ANFH; COL11A3; SEDC; MGC131516; Collagen, Type II, Alpha 1 wt Allele;
NCIt definition : Human COL2A1 wild-type allele is located within 12q13.11-q13.2 and is approximately
32 kb in length. This allele, which encodes collagen alpha-1(II) chain protein, is
involved in the mediation of both cartilage structure and skeletal development. Mutations
in the gene are associated with a large number of inherited disorders.;
NCIt note : Mutations in the COL2A1 gene are associated with autosomal dominant rhegmatogenous
retinal detachment, Stickler syndrome type 1, Wagner syndrome type II, spondyloperipheral
dysplasia, multiple epiphyseal dysplasia with myopia and conductive deafness, platyspondylic
lethal skeletal dysplasia Torrance type, osteoarthritis with mild chondrodysplasia,
primary avascular necrosis of femoral head, Kniest syndrome, Legg-Calve-Perthes disease,
achondrogenesis hypochondrogenesis type 2, Strudwick type spondyloepimetaphyseal dysplasia,
spondyloepiphyseal dysplasia congenital type, and a variety of chondrodysplasia including
hypochondrogenesis and osteoarthritis.;
GenBank Accession Number : X16468;
Origin ID : C75317;
UMLS CUI : C2698738;
OMIM relation
- Semantic type(s)
- gene_found_in_organism
- gene_plays_role_in_process
