佩莱肯
硫酸乙酰肝素
蛋白多糖
生物
细胞生物学
遗传学
细胞外基质
细胞
出处
期刊:American Journal of Physiology-cell Physiology
[American Physiological Society]
日期:2022-06-01
卷期号:322 (6): C1117-C1122
被引量:3
标识
DOI:10.1152/ajpcell.00113.2022
摘要
Perlecan, a basement membrane-type heparan sulfate proteoglycan, is an important molecule in the functional diversity of organisms because of the diversity of its glycan chains and the multifunctionality of its core proteins. Human diseases associated with perlecan have been identified using gene-deficient mice. Two human diseases related to perlecan have been reported. One is Silverman-Handmaker type dyssegmental dysplasia, resulting from the complete loss of function of the HSPG2 gene that encodes perlecan core protein, which is mapped to chromosome 1p36. The other is Schwartz-Jampel syndrome resulting from the partial loss of function of the HSPG2 gene. Subsequent in vivo and in vitro studies have revealed the organ-specific functions of perlecan, suggesting its involvement in the pathogenesis of various human diseases. In this review, we discuss the role of perlecan in human diseases and summarize our knowledge about perlecan as a future therapeutic target to treat related diseases and for healthy longevity.
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