RecName: Full=Retinal-specific phospholipid-transporting ATPase ABCA4; - Protein

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Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy. [Int J Mol Sci. 2024]
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy.
Corradi Z, Dhaenens CM, Grunewald O, Kocabaş IS, Meunier I, Banfi S, Karali M, Cremers FPM, Hitti-Malin RJ. Int J Mol Sci. 2024 May 29; 25(11). Epub 2024 May 29.
Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease. [Nucleic Acid Ther. 2024]
Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease.
Suárez-Herrera N, Garanto A, Collin RWJ. Nucleic Acid Ther. 2024 Apr; 34(2):73-82. Epub 2024 Mar 12.
Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease. [Mol Vis. 2023]
Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.
Cevik S, Wangtiraumnuay N, Van Schelvergem K, Tsukikawa M, Capasso J, Biswas SB, Bodt B, Levin AV, Biswas-Fiss E. Mol Vis. 2023; 29:217-233. Epub 2023 Oct 25.

RefSeq genomic sequence
See the genomic reference sequence for the ABCA4 gene (NG_009073.2).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the ABCA4 gene.

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P78363 [Domain Mapping of Disease Mut...]
P78363
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

RecName: Full=Retinal-specific phospholipid-transporting ATPase ABCA4; AltName: ...
RecName: Full=Retinal-specific phospholipid-transporting ATPase ABCA4; AltName: Full=ATP-binding cassette sub-family A member 4; AltName: Full=RIM ABC transporter; Short=RIM proteinv; Short=RmP; AltName: Full=Retinal-specific ATP-binding cassette transporter; AltName: Full=Stargardt disease protein
gi|6707663|sp|P78363.3|ABCA4_HUMAN

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