Primary Identifier | MGI:88158 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 12111 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables cytokine binding activity; extracellular matrix binding activity; and glycosaminoglycan binding activity. Acts upstream of or within articular cartilage development and bone development. Located in extracellular matrix and sarcolemma. Is expressed in several structures, including cardiovascular system; central nervous system; embryo mesenchyme; genitourinary system; and jaw. Human ortholog(s) of this gene implicated in Meester-Loeys syndrome and X-linked spondyloepimetaphyseal dysplasia. Orthologous to human BGN (biglycan). PHENOTYPE: Homozygous null mutants display reduced growth and develop age-dependent osteopenia. Age-related osteoporosis is associated with defects in bone marrow stromal cells, including increased apoptosis, reduced numbers of colony-forming units-fibroblastic (CFU-F), and decreased collagen production. [provided by MGI curators] |