COL1A1 wt Allele

Human COL1A1 wild-type allele is located in the vicinity of 17q21.33 and is approximately 18 kb in length. This allele, which encodes collagen alpha-1 (I) chain protein, is involved in both the development and maintenance of tendon, ligaments and bones. Mutations in the gene are associated with both Ehlers-Danlos syndrome and osteogenesis imperfecta types. In cases of dermatofibrosarcoma protuberans the gene is involved in a translocation t(17;22)(q22;q13) with the PDGF gene. (NCI Thesaurus)

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COL1A1 Gene

This gene plays an important structural role in cartilage and mutations in the gene are associated with osteogenesis imperfecta.

COL1A1 Associated Connective Tissue Disorder

A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome,…

COL18A1 wt Allele

Human COL18A1 wild-type allele is located in the vicinity of 21q22.3 and is approximately 109 kb in length. This allele, which encodes…

COL18A1 Gene

This gene is involved in anti-angiogenic mediation.

COL18A1

A substance being studied in the treatment of cancer. COL18A1 is made from a type of collagen (a protein found in cartilage…

COL11A1 wt Allele

Human COL11A1 wild-type allele is located in the vicinity of 1p21 and is approximately 232 kb in length. This allele, which encodes…