BGN
Function
May be involved in collagen fiber assembly.
Involvement in disease
Meester-Loeys syndrome
MRLS
An X-linked, thoracic aortic aneurysm syndrome characterized by early-onset, severe aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus deformity, joint hypermobility, contractures, and mild skeletal dysplasia.
None
The disease is caused by variants affecting the gene represented in this entry.
Spondyloepimetaphyseal dysplasia, X-linked
SEMDX
An X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The two attached glycosaminoglycan chains can be either chondroitin sulfate or dermatan sulfate.
Sequence Similarities
Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.
Tissue Specificity
Detected in placenta (at protein level) (PubMed:32337544). Found in several connective tissues, especially in articular cartilages.
Cellular localization
- Secreted
- Extracellular space
- Extracellular matrix
Alternative names
SLRR1A, BGN, Biglycan, Bone/cartilage proteoglycan I, PG-S1