Genomes and Genes
Gene Symbol: Atp8a2
Description: ATPase, aminophospholipid transporter-like, class I, type 8A, member 2
Alias: AI415030, Atpc1b, agil, phospholipid-transporting ATPase IB, ATPase 8A2, class I, ATPase 8A2, p type, ATPase class I type 8A member 2, ATPase, class 1, member a, P4-ATPase flippase complex alpha subunit ATP8A2
- Luse S, Chenard C, Finke E. The wabbler-lethal mouse. An electron microscopic study of the nervous system. Arch Neurol. 1967;17:153-61 pubmed
- Xu Q, Yang G, Liu N, Xu P, Chen Y, Zhou Z, et al. P4-ATPase ATP8A2 acts in synergy with CDC50A to enhance neurite outgrowth. FEBS Lett. 2012;586:1803-12 pubmed publisher..In humans, the disruption of the P(4)-ATPase ATP8A2 gene causes a severe neurological phenotype...
- Murad S, Kishimoto Y. Alpha hydroxylation of lignoceric acid to cerebronic acid during brain development. Diminished hydroxylase activity in myelin-deficient mouse mutants. J Biol Chem. 1975;250:5841-6 pubmed..These results suggest a close association of the synthesis of cerebronic acid with the synthesis of the characteristic myelin lipid that is cerebroside (N-acyl sphingosine beta-D-galactoside)...
- Lee S, Uchida Y, Wang J, Matsudaira T, Nakagawa T, Kishimoto T, et al. Transport through recycling endosomes requiresÂ EHD1 recruitment by a phosphatidylserineÂ translocase. EMBO J. 2015;34:669-88 pubmed publisher..EHD1 did not show membrane localization in cells defective in PS synthesis. ATP8A2, a tissue-specific ATP8A1 paralogue, is associated with a neurodegenerative disease (CAMRQ)...
- Zhang L, Yang Y, Li S, Zhang S, Zhu X, Tai Z, et al. Loss of Tmem30a leads to photoreceptor degeneration. Sci Rep. 2017;7:9296 pubmed publisher..The broad loss of Tmem30a in adult mice led to a reduced scotopic photoresponse, mislocalization of ATP8A2 to the inner segment and cell body, and increased apoptosis in the retina...