| Health / Medical Topics |
COL1A1/PDGFB Fusion Protein
A fusion protein encoded by the COL1A1/PDGFB fusion gene. This protein is comprised of various portions of the collagen alpha-1(I) chain protein fused to all but the first 21 amino acids of the platelet-derived growth factor subunit B protein. (NCI Thesaurus)
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A fusion gene that results from a chromosomal translocation t(17;22)(q22;q13) and supernumerary ring chromosomes derived from t(17;22) which fuses the COL1A1 gene…
Human COL1A1 wild-type allele is located in the vicinity of 17q21.33 and is approximately 18 kb in length. This allele, which encodes…
This gene plays an important structural role in cartilage and mutations in the gene are associated with osteogenesis imperfecta.
A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome,…
Human COL18A1 wild-type allele is located in the vicinity of 21q22.3 and is approximately 109 kb in length. This allele, which encodes…
This gene is involved in anti-angiogenic mediation.
