BGN biglycan

Gene ID: 633, updated on 10-Oct-2024
Gene type: protein coding
Also known as: PGI; MRLS; DSPG1; PG-S1; SEMDX; SLRR1A

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Meester-Loeys syndrome MedGen: C4310811OMIM: 300989GeneReviews: Heritable Thoracic Aortic Disease Overview	See labs
X-linked spondyloepimetaphyseal dysplasia MedGen: C1848097OMIM: 300106GeneReviews: Not available	See labs

Genomic context

Location:: Xq28

Sequence:: Chromosome: X; NC_000023.11 (153494980..153509546)

Total number of exons:: 8

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for BGN variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

BGN @ LOVD
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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