Homo sapiens ATP binding cassette subfamily A member 4 (ABCA4), transc - Nucleotide

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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 alternative splicing
See the other reference mRNA sequence splice variant for the ABCA4 gene (NM_001425324.1).
RefSeq protein product
See the reference protein sequence for retinal-specific phospholipid-transporting ATPase ABCA4 isoform 1 (NP_000341.2).

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Protein sequence from Nucleotide coding region
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Homo sapiens ATP binding cassette subfamily A member 4 (ABCA4), transcript varia...
Homo sapiens ATP binding cassette subfamily A member 4 (ABCA4), transcript variant 1, mRNA
gi|1519245111|ref|NM_000350.3|

Nucleotide

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Nucleotide