BGN gene


The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in bone growth, muscle development and regeneration, and collagen fibril assembly in multiple tissues. This protein may also regulate inflammation and innate immunity. Additionally, the encoded protein may contribute to atherosclerosis and aortic valve stenosis in human patients. This gene and the related gene decorin are thought to be the result of a gene duplication. [provided by RefSeq, Nov 2015]

From UniProt:

May be involved in collagen fiber assembly.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Spondyloepimetaphyseal dysplasia X-linked
  • Meester-loeys syndrome

From UniProt:

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. [MIM:300989]

Spondyloepimetaphyseal dysplasia, X-linked (SEMDX): A 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. [MIM:300106]

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28

Molecular Location: base pairs 153,494,980 to 153,509,546 on the X chromosome (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28
  • DSPG1
  • MRLS
  • PG-S1
  • PGI
  • SLRR1A