RecName: Full=Bifunctional coenzyme A synthase; Short=CoA synthase; Al - Protein

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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases. [Ann Clin Transl Neurol. 2024]
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, et al. Ann Clin Transl Neurol. 2024 Jun; 11(6):1615-1629. Epub 2024 May 15.
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants. [Am J Med Genet A. 2023]
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
Rosati J, Johnson J, Stander Z, White A, Tortorelli S, Bailey D, Fong CT, Lee BH. Am J Med Genet A. 2023 Mar; 191(3):842-845. Epub 2022 Dec 10.
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. [Am J Med Genet A. 2022]
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Mishra R, Kulshreshtha S, Mandal K, Khurana A, Diego-Álvarez D, Pradas L, Saxena R, Phadke S, Moirangthem A, Masih S, et al. Am J Med Genet A. 2022 Aug; 188(8):2339-2350. Epub 2022 May 2.

RefSeq genomic sequence
See the genomic reference sequence for the COASY gene (NG_034110.1).
RefSeq genomic sequence
See the genomic reference sequence for the COASY gene (NG_029442.1).
RefSeq protein isoforms
See 11 reference sequence protein isoforms for the COASY gene.

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Q13057 [Domain Mapping of Disease Mut...]
Q13057
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

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Protein