Definition: CSPG6, or bamacan (BAM) is an abundant secreted chondroitin sulfate proteoglycan in basement membranes and an intracellular protein that has been referred to as SMC3.
SMC3 has a role in cohesin association with and dissociation from chromosomes. Proteoglycans are specialized glycoproteins with heterogeneous structures that are found in all connective tissues and on cell surfaces.
CSPG6 was originally isolated from embryonic parietal yolk sac.
Pathology
germline mutation in the gene encoding the complementary subunit of the cohesin heterodimer SMC3 (CSPG6) in a mild variant of Cornelia de Lange syndrome with predominant mental retardation (CDLS3) (MIM.610759) (17273969)
References
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. Am J Hum Genet. 2007 Mar;80(3):485-94. PMID: 17273969