COL1A2 wt Allele

Cancer Terms -> Gene -> Structural Gene -> Extracellular Matrix Protein Gene -> Collagen Gene -> COL1A2 Gene -> COL1A2 wt Allele

COL1A2 wt Allele 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.

COL1A2 wt Allele Synonyms

COL1A2 wt Allele, COL1A2, Collagen, Type I, Alpha 2 wt Allele, OI4

Terms in COL1A2 wt Allele category

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