RecName: Full=Junctophilin-3; Short=JP-3; AltName: Full=Junctophilin t - Protein

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Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. [Mov Disord. 2023]
Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder.
Steel D, Vezyroglou A, Barwick K, Smith M, Vogt J, Gibbon FM, Cross JH, Kurian MA. Mov Disord. 2023 Jan; 38(1):155-157. Epub 2022 Oct 23.
Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers. [Theranostics. 2017]
Epigenomic and Functional Characterization of Junctophilin 3 (JPH3) as a Novel Tumor Suppressor Being Frequently Inactivated by Promoter CpG Methylation in Digestive Cancers.
Hu X, Kuang Y, Li L, Tang H, Shi Q, Shu X, Zhang Y, Chan FK, Tao Q, He C. Theranostics. 2017; 7(7):2150-2163. Epub 2017 May 30.
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach. [JAMA Neurol. 2016]
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.
Mariani LL, Tesson C, Charles P, Cazeneuve C, Hahn V, Youssov K, Freeman L, Grabli D, Roze E, Noël S, et al. JAMA Neurol. 2016 Sep 1; 73(9):1105-14.

RefSeq genomic sequence
See the genomic reference sequence for the JPH3 gene (NG_009797.1).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the JPH3 gene.

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Q8WXH2 [Domain Mapping of Disease Mut...]
Q8WXH2
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
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein