MGI:1914313Mice homozygous for a null allele show increased blood alkaline phosphatase level, impaired bone formation, reduced locomotor activity, impaired memory, and increased susceptibility to prion infection.
Pgap4(Golgi Phosphatidylinositol Glycan Anchor Biosynthesis Class F Protein)是一种位于高尔基体的酶,它在糖基磷脂酰肌醇(GPI)锚定蛋白的生物合成中起着重要作用。GPI锚定蛋白是一类通过GPI锚定到细胞膜上的蛋白质,参与多种细胞过程,包括信号传导、细胞黏附和细胞识别。Pgap4在GPI锚定蛋白的N-乙酰半乳糖胺(GalNAc)修饰中发挥着关键作用,这种修饰对于GPI锚定蛋白的功能和定位至关重要。
1. Hirata, Tetsuya, Mishra, Sushil K, Nakamura, Shota, Yamaguchi, Yoshiki, Kinoshita, Taroh. 2018. Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domain. In Nature communications, 9, 405. doi:10.1038/s41467-017-02799-0. https://pubmed.ncbi.nlm.nih.gov/29374258/