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ASPN

MIM.608135 9q21.3-q22

ASPN belongs to a family of leucine-rich repeat (LRR) proteins associated with the cartilage matrix. The name asporin reflects the unique aspartate-rich N terminus and the overall similarity to decorin (MIM.125255).

Pathology

- variants in knee osteoarthritis (MIM.165720)
- association of the asporin D14 allele with lumbar-disc degeneration in Asians (#18304494#)

References

- Song YQ, Cheung KM, Ho DW, Poon SC, Chiba K, Kawaguchi Y, Hirose Y, Alini M, Grad S, Yee AF, Leong JC, Luk KD, Yip SP, Karppinen J, Cheah KS, Sham P, Ikegawa S, Chan D. Association of the asporin D14 allele with lumbar-disc degeneration in Asians. Am J Hum Genet. 2008 Mar;82(3):744-7. Epub 2008 Feb 21. PMID: #18304494#