Gene Symbol: Atp8a2
Description: ATPase phospholipid transporting 8A2
Alias: phospholipid-transporting ATPase IB, ATPase, aminophospholipid transporter, class I, type 8A, member 2
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. ..
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...
van der Velden L, Wichers C, van Breevoort A, Coleman J, Molday R, Berger R, et al
. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. J Biol Chem. 2010;285:40088-96 pubmed publisher
..ATP8B1 and ATP8B2 co-immunoprecipitated with CDC50A and CDC50B, whereas ATP8B4, ATP8A1, and ATP8A2 associated only with CDC50A...
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...
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...