Atp8a2

Summary

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
Species: mouse
Products:     Atp8a2

Top Publications

  1. Halleck M, Lawler JF J, Blackshaw S, Gao L, Nagarajan P, Hacker C, et al. Differential expression of putative transbilayer amphipath transporters. Physiol Genomics. 1999;1:139-50 pubmed
    ..These results suggest that the genes are expressed in a tissue-specific manner, are not simply redundant, and may represent isoforms that transport a variety of different amphipaths...
  2. Coleman J, Kwok M, Molday R. Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes. J Biol Chem. 2009;284:32670-9 pubmed publisher
    ..In this study, we report on the localization and functional properties of Atp8a2, a member of the P(4)-ATPase subfamily that has not been studied previously...
  3. Carroll E, Curtis R, Sullivan D, Melvin J. Wallerian degeneration in the optic nerve of the wabbler-lethal (wl/wl) mouse. Brain Res Bull. 1992;29:411-8 pubmed
    ..In the optic nerve of wl/wl mice, axonal degeneration preceded myelin disruption, adding this nerve to other previously reported systems undergoing Wallerian degeneration in this mutant. ..
  4. Bronson R, Sweet H, Spencer C, Davisson M. Genetic and age related models of neurodegeneration in mice: dystrophic axons. J Neurogenet. 1992;8:71-83 pubmed
    ..The mutant models of neuroaxonal dystrophy may prove useful in studies of the pathophysiology of DA in general and of specific inherited diseases of man, such as infantile neuroaxonal dystrophy and Hallervordin-Spatz disease. ..
  5. Cacciagli P, Haddad M, Mignon Ravix C, El Waly B, Moncla A, Missirian C, et al. Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype. Eur J Hum Genet. 2010;18:1360-3 pubmed publisher
    ..The translocation breakpoint disrupts the coding sequence of a single gene, called ATP8A2. The ATP8A2 gene is not ubiquitously expressed, but it is highly expressed in the brain...
  6. Zhu X, Libby R, de Vries W, Smith R, Wright D, Bronson R, et al. Mutations in a P-type ATPase gene cause axonal degeneration. PLoS Genet. 2012;8:e1002853 pubmed publisher
    ..In addition, we have identified the gene harboring the disease-causing mutations as Atp8a2. We studied three wl alleles and found that all result from mutations in the Atp8a2 gene...
  7. Coleman J, Zhu X, Djajadi H, Molday L, Smith R, Libby R, et al. Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival. J Cell Sci. 2014;127:1138-49 pubmed publisher
    b>ATP8A2 is a P4-ATPase that is highly expressed in the retina, brain, spinal cord and testes...
  8. Paulusma C, Oude Elferink R. The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease. Biochim Biophys Acta. 2005;1741:11-24 pubmed
  9. Siegel S, Rauch H. Aromatic amino acid metabolism in the wabbler-lethal mouse. Biochem Genet. 1969;2:311-8 pubmed

More Information

Publications14

  1. 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
  2. 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...
  3. 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)...
  4. Lee S, Uchida Y, Wang J, Matsudaira T, Nakagawa T, Kishimoto T, et al. Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine 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)...
  5. 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...