| Health / Medical Topics |
COL1A2/PLAG1 Fusion Gene
A fusion gene that results from a chromosomal translocation t(7;8)(p22;q13) which fuses the 5' promoter region of the COL1A2 gene upstream of the entire coding region of the PLAG1 gene. This rearrangement is associated with both aberrant expression of the transcription factor zinc finger protein PLAG1 and lipoblastoma. (NCI Thesaurus)
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Human COL1A2 wild-type allele is located in the vicinity of 7q22.1 and is approximately 37 kb in length. This allele, which encodes…
This gene plays a role in the compositional regulation of several connective tissues.
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…
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.
