Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA

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Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy. [Invest Ophthalmol Vis Sci. 2023]
Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.
Gazit I, Hecht I, Weiner C, Kotlyar A, Almer Z, Bakshi E, Or L, Volkov H, Feldman B, Maharshak I, et al. Invest Ophthalmol Vis Sci. 2023 Oct 3; 64(13):17.
Oculocutaneous Albinism and Ocular Albinism Overview. [GeneReviews(®). 1993]
Oculocutaneous Albinism and Ocular Albinism Overview.
Thomas MG, Zippin J, Brooks BP. GeneReviews(®). 1993-2024. 2023 Apr 13
WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism. [Free Radic Biol Med. 2023]
WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism.
Xiong Q, Sun H, Xing W, Li X, Chen G, Zhao Z, Wu C, Li P. Free Radic Biol Med. 2023 May 20; 201:89-97. Epub 2023 Mar 20.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the WDR45 gene (NM_001029896.2).
RefSeq protein product
See the reference protein sequence for WD repeat domain phosphoinositide-interacting protein 4 isoform 1 (NP_009006.2).

Protein
Protein sequence from Nucleotide coding region
PubMed
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Taxonomy
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Annotated Genomic
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Nucleotide