adaptor related protein complex 3 subunit beta 2
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Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalOptic neuropathy
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomaldevelopmental and epileptic encephalopathy, 48
genetic developmental and epileptic encephalopathy
undetermined early-onset epileptic encephalopathy
Epileptic encephalopathy
intelligence
mathematical ability
attention deficit-hyperactivity disorder
autism spectrum disorder
placental abruption
schizophrenia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
AP-3 complex subunit beta-2
Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals
AP3B2 · Q13367
Mean pLDDT
74.9/ 100
Confident
1,082 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
