Go Annotations as Summary Text (Tabular View) (GO Graph)

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Automated description from the Alliance of Genome Resources (Release 8.2.0)

Enables identical protein binding activity. An extracellular matrix structural constituent. Involved in cellular response to mechanical stimulus and osteoblast differentiation. Acts upstream of or within several processes, including face morphogenesis; intramembranous ossification; and skeletal system morphogenesis. Located in collagen-containing extracellular matrix; cytoplasm; and extracellular space. Part of collagen type I trimer. Is expressed in several structures, including alimentary system; embryo mesenchyme; heart and pericardium; limb; and skeleton. Used to study several diseases, including D-2-hydroxyglutaric aciduria; Diamond-Blackfan anemia; hepatocellular carcinoma; lung cancer (multiple); and osteogenesis imperfecta (multiple). Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Orthologous to human COL1A1 (collagen type I alpha 1 chain).

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Gene Ontology Evidence Code Abbreviations:

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