该基因编码I型胶原的前α1链，其三螺旋包括两个α1链和一个α2链。I型胶原是一种形成纤维的胶原，存在于大多数结缔组织中，富含骨、角膜、真皮和肌腱。该基因突变与I-IV型成骨不全、VIIA型Ehlers-Danlos综合征、经典型Ehlers-Danlos综合征、Caffey病和特发性骨质疏松症有关这种基因和血小板衍生生长因子β基因所在的17号和22号染色体之间的相互易位与一种特殊类型的皮肤肿瘤有关，这种皮肤肿瘤称为隆突性皮肤纤维肉瘤，是生长因子表达不受调控的结果利用交替的聚腺苷酸化信号产生的两个转录本已经被鉴定为该基因。[由R.Dalgleish提供，2008年2月]
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. 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. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
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