Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

AlphaFold and Implications for Intrinsically Disordered Proteins

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Highly accurate protein structure prediction with AlphaFold

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Expression of three P4-phospholipid flippases—atp11a, atp11b, and atp11c in zebrafish (Danio rerio)

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The N- or C-terminal cytoplasmic regions of P4-ATPases determine their cellular localization

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UCSF ChimeraX : Structure visualization for researchers, educators, and developers

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Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing

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Proteomic Analysis and Functional Characterization of P4-ATPase Phospholipid Flippases from Murine Tissues

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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

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C-terminus of the P4-ATPase ATP8A2 functions in protein folding and regulation of phospholipid flippase activity

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Phosphatidylserine is a global immunosuppressive signal in efferocytosis, infectious disease and cancer

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ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia

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New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

(2016) Elena Martín-Hernández et al.   NEUROGENETICS

ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia

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P4-ATPases as Phospholipid Flippases—Structure, Function, and Enigmas

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Human Type IV P-type ATPases That Work as Plasma Membrane Phospholipid Flippases and Their Regulation by Caspase and Calcium

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Ensembl 2016

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Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

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SHIELD: an integrative gene expression database for inner ear research

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Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival

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Caspase-mediated cleavage of phospholipid flippase for apoptotic phosphatidylserine exposure

(2014) K. Segawa et al.   SCIENCE

P4 ATPases - The physiological relevance of lipid flipping transporters

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CDC50 Proteins Are Critical Components of the Human Class-1 P4-ATPase Transport Machinery

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Ein neuer Genort für eine autosomal-dominante, nichtsyndromale Schwerhörigkeit (DFNA33) liegt auf Chromosom 13q34-qter

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A Contemporary Review of AudioGene audioprofiling: A machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss

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ATP8B1 is essential for maintaining normal hearing

(2009) J. M. Stapelbroek et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA