RecName: Full=Propionyl-CoA carboxylase beta chain, mitochondrial; Sho - Protein

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A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue. [Mol Genet Metab. 2023]
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
Kurolap A, Barel D, Shaul Lotan N, Wexler I, Chai Gadot C, Mory A, Barel O, Almashanu S, Baris Feldman H. Mol Genet Metab. 2023 Nov; 140(3):107702. Epub 2023 Sep 26.
Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways. [Nat Commun. 2023]
Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways.
Zhang W, Zhang M, Xu Z, Yan H, Wang H, Jiang J, Wan J, Tang B, Liu C, Chen C, et al. Nat Commun. 2023 Aug 24; 14(1):5176. Epub 2023 Aug 24.
Novel variants of the PCCB gene in Chinese patients with propionic acidemia. [Clin Chim Acta. 2021]
Novel variants of the PCCB gene in Chinese patients with propionic acidemia.
Yang X, Li D, Tu C, He W, Meng L, Tan YQ, Lu G, Du J, Zhang Q. Clin Chim Acta. 2021 Aug; 519:18-25. Epub 2021 Mar 31.

RefSeq genomic sequence
See the genomic reference sequence for the PCCB gene (NG_008939.1).

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P05166 [Domain Mapping of Disease Mut...]
P05166
Domain Mapping of Disease Mutations
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