BGN gene

biglycan

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.

From NCBI Gene:

  • Spondyloepimetaphyseal dysplasia X-linked

From UniProt:

Defects in PGS1 have been found in patients with X-linked recessive spondyloepiphyseal dysplasia which is characterized by remarkable growth retardation between 12 and 24 months of age, resomelic shortening of the limbs, short limbs to trunk ratio, bowing of the legs, a waddling gait with lumbar lordosis and brachydactyly.

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

Molecular Location: base pairs 153,494,889 to 153,509,554 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

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