acyl-CoA-binding domain-containing protein 5 isoform X1 [Homo sapiens]

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Newly defined peroxisomal disease with novel ACBD5 mutation. [J Pediatr Endocrinol Metab. 2022]
Newly defined peroxisomal disease with novel ACBD5 mutation.
Gorukmez O, Havalı C, Gorukmez O, Dorum S. J Pediatr Endocrinol Metab. 2022 Jan 27; 35(1):11-18. Epub 2021 Oct 20.
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature. [Am J Med Genet A. 2021]
First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature.
Bartlett M, Nasiri N, Pressman R, Bademci G, Forghani I. Am J Med Genet A. 2021 Apr; 185(4):1236-1241. Epub 2021 Jan 11.
Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids. [J Biol Chem. 2017]
Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids.
Yagita Y, Shinohara K, Abe Y, Nakagawa K, Al-Owain M, Alkuraya FS, Fujiki Y. J Biol Chem. 2017 Jan 13; 292(2):691-705. Epub 2016 Nov 29.

RefSeq genomic sequence
See the genomic reference sequence for the ACBD5 gene (NG_032960.4).
RefSeq mRNA
See reference mRNA sequence for the ACBD5 gene (XM_017016887.3).
RefSeq protein isoforms
See 61 reference sequence protein isoforms for the ACBD5 gene.

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Protein