Maspardin-ACP33-SPG21_like

Family: Maspardin-ACP33-SPG21_like

Block: X

Parent Family: Abhydrolase_6

Comment

ACP33 binds the intracellular domain of CD4. Mutation S109A abolishes the interraction. S109 is in similar position as active site serine of a/b hydrolase. Maspardin-ACP33-SPG21 gene is mutated in Mast Syndrome (Cross and McKusick 1967, Simpson et al 2003), a Complicated Form of hereditary spastic paraplegia associated with dementia. Ishiura et al. (2014) reported 2 Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967). Maspardin is conserved in metazoans but independent losses of this gene occured in two relatively distant ecdysozoan taxa: dipterans and nematodes (Chertemps et al.). Extracellular vesicles from Echinococcus granulosus (Platyhelminthe-Cestode) larval stage contain an orthologue of maspardin (Nicolao 2019). A Novel alpha/beta-hydrolase gene IbMa, homologous to maspardin, enhances salt tolerance in transgenic Sweetpotato (Liu et al. 2014) OsMas1 in rice (Wang et al. 2022). SPG21 might be involved in enhancing HBx-induced carcinogenesis and doxorubicin resistance in HCC via the TRPM7/Ca2+/JNK signaling pathway (Zhou et al. 2014). SPG21 is new microtubule-associated protein, which were required for TNBC (Triple-negative breast cancer cell) survival (Chen et al. 2014)