Automated description from the Alliance of Genome Resources (Release 7.4.0)
Enables integrin binding activity. Involved in several processes, including elastic fiber assembly; intramembranous bone growth; and regulation of transcription by RNA polymerase II. Acts upstream of or within extracellular matrix organization. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix and elastic fiber. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; heart; and skeleton. Used to study cutis laxa. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease; age related macular degeneration; autosomal dominant cutis laxa 2; autosomal recessive cutis laxa type IA; and cutis laxa. Orthologous to human FBLN5 (fibulin 5).
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