妊娠相关血浆蛋白A
妊娠相关血浆蛋白A（英語：，或Pappalysin-1，缩写PAPP-A）是一种由人类基因 PAPPA 编码的蛋白质，PAPP-A是一种分泌蛋白酶，其主要底物是胰岛素样生长因子结合蛋白。PAPP-A也用于唐氏综合征的筛查试验。[5][6]
| 妊娠相关血浆蛋白A | |||||||||||||||||||||||||
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| 别名 | PAPPA；, ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1, pappalysin 1 | ||||||||||||||||||||||||
| 外部ID | OMIM：176385 MGI：97479 HomoloGene：31097 GeneCards：PAPPA | ||||||||||||||||||||||||
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| RNA表达模式 | |||||||||||||||||||||||||
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| 直系同源 | |||||||||||||||||||||||||
| 物種 | 人類 | 小鼠 | |||||||||||||||||||||||
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| mRNA序列 | |||||||||||||||||||||||||
| 蛋白序列 | |||||||||||||||||||||||||
| 基因位置（UCSC） | Chr 9: 116.15 – 116.4 Mb | Chr 4: 65.04 – 65.28 Mb | |||||||||||||||||||||||
| PubMed查找 | [3] | [4] | |||||||||||||||||||||||
| 維基數據 | |||||||||||||||||||||||||
功能
此基因编码一种分泌的金属蛋白酶，主要用于切割胰岛素样生长因子的结合蛋白（IGFBPs）。PAPP-A的蛋白水解活性在与膠原蛋白结合后被激活，参与许多局部增生过程，比如傷口癒合和骨重塑。血浆中出现低水平的此蛋白被认为是妊娠中出现非整倍體胎兒（胎兒拥有不正常的染色体数）的生化标志物[6]，比如在唐氏综合征的產前診斷中，低水平的PAPP-A是一个重要标志[5]。低水平的PAPP-A也可表明胎盤存在问题，并导致不良并发症如宫内生长受限、妊娠毒血症、胎盤早期剝離、早產乃至死產。
参考文献
- GRCh38: Ensembl release 89: ENSG00000182752 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000028370 - Ensembl, May 2017
- . National Center for Biotechnology Information, U.S. National Library of Medicine.
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- .
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- Oxvig C, Sand O, Kristensen T, Gleich GJ, Sottrup-Jensen L. . J. Biol. Chem. June 1993, 268 (17): 12243–6. PMID 7685339.
延伸阅读
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