RecName: Full=Protein phosphatase 1 regulatory subunit 21; AltName: Fu - Protein

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Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. [Clin Genet. 2024]
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, et al. Clin Genet. 2024 Jun; 105(6):620-629. Epub 2024 Feb 14.
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. [Mol Neurobiol. 2023]
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function.
Hentschel A, Meyer N, Kohlschmidt N, Groß C, Sickmann A, Schara-Schmidt U, Förster F, Töpf A, Christiansen J, Horvath R, et al. Mol Neurobiol. 2023 May; 60(5):2602-2618. Epub 2023 Jan 24.
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review. [Am J Med Genet A. 2020]
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.
Loddo S, Alesi V, Radio FC, Genovese S, Di Tommaso S, Calvieri G, Orlando V, Bertini E, Dentici ML, Novelli A, et al. Am J Med Genet A. 2020 Dec; 182(12):3014-3022. Epub 2020 Sep 27.

RefSeq protein isoforms
See 5 reference sequence protein isoforms for the PPP1R21 gene.

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Q6ZMI0 [Domain Mapping of Disease Mut...]
Q6ZMI0
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

RecName: Full=Protein phosphatase 1 regulatory subunit 21; AltName: Full=Coiled-...
RecName: Full=Protein phosphatase 1 regulatory subunit 21; AltName: Full=Coiled-coil domain-containing protein 128; AltName: Full=Ferry endosomal RAB5 effector complex subunit 2; Short=Fy-2; AltName: Full=KLRAQ motif-containing protein 1
gi|74710533|sp|Q6ZMI0.1|PPR21_HUMAN

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