GeneID: 56


Common Name: COL1A1 Type: Gene
Chromosome: 17 (NC_000017.11) Locus: NG_007400.1 (COL1A1)
HUGO Symbol: COL1A1 Full Name: collagen type I alpha 1
Exons: 51 Introns: 50

The COL1A1 gene encodes the pro-alpha1 chains of type I collagen. Collagen is a major structural protein in the extracellular matrix and connective tissue, and comprises a family of 28 members. Type I collagen is the main collagen of skin, tendon and bone and by far the most common. Type I collagen molecules are triplet helical structures made up of two α1(I) and one α2(I) chains. These are synthesized as precursor proα1(I) and proα2(I) chains containing a repeating Gly-Pro-X sequence, and undergo a series of posttranslational modification steps prior to folding into a triple helix. Functional collagen molecules undergo fibrillogenesis. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Polymorphisms in this gene associated with bone mineral density (osteoporosis) in β-thalassemia patients. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene.

Synonyms: OI4


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Publications / Origin

  1. Arisal O, Deviren A, Fenerci EY, Hacihanefioglu S, Ulutin T, Erkmen S, Buyru N, Polymorphism analysis in the COLIA1 gene of patients with thalassemia major and intermedia., Haematologia (Budap) , 32(4), 475-82, 2002 PubMed
  2. Hamed HM, Galal A, Ghamrawy ME, Abd El Azeem K, Hussein IR, Abd-Elgawad MF, An SP1-binding site polymorphism in the COLIAI gene and osteoporosis in Egyptian patients with thalassemia major., Blood Coagul. Fibrinolysis , 22(2), 81-5, 2011 PubMed
Created on 2016-04-25 18:22:05, Last reviewed on 2016-04-26 18:27:59 (Show full history)

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