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

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Automated description from the Alliance of Genome Resources (Release 8.3.0)

Enables hormone activity. Involved in negative regulation of osteoclast development; sequestering of BMP in extracellular matrix; and sequestering of TGFbeta in extracellular matrix. Acts upstream of or within gene expression and lung alveolus development. Located in microfibril. Is expressed in several structures, including cardiovascular system; connective tissue; eye; genitourinary system; and respiratory system. Used to study Weill-Marchesani syndrome; aortic disease (multiple); heart disease; pulmonary emphysema; and systemic scleroderma. Human ortholog(s) of this gene implicated in several diseases, including CREST syndrome; Weill-Marchesani syndrome; aortic disease (multiple); autosomal dominant isolated ectopia lentis 1; and bone disease (multiple). Orthologous to human FBN1 (fibrillin 1).

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Gene Ontology Evidence Code Abbreviations:

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