GeneID: 56

Description:
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

Comments:
N/A

Number of entries/variants: 1

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