protein phosphatase 2 regulatory subunit B'delta
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Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHydrocephalus
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedBeckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
UnknownHogue-Janssens syndrome 1
Intellectual disability
cancer
neurodegenerative disease
hereditary disease
genetic developmental and epileptic encephalopathy
chronic myelogenous leukemia, BCR-ABL1 positive
complex neurodevelopmental disorder
neurodevelopmental disorder
Neurodevelopmental delay
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform
The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment
PPP2R5D · Q14738
Mean pLDDT
79.9/ 100
Confident
602 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
