RecName: Full=AP-3 complex subunit beta-2; AltName: Full=Adaptor prote - Protein

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Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity. [Clin Neurol Neurosurg. 2022]
Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
Dilber C, Yücel G, Şahin Y. Clin Neurol Neurosurg. 2022 Dec; 223:107509. Epub 2022 Nov 3.
Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG. [Neurology. 2019]
Autoimmune gait disturbance accompanying adaptor protein-3B2-IgG.
Honorat JA, Lopez-Chiriboga AS, Kryzer TJ, Komorowski L, Scharf M, Hinson SR, Lennon VA, Pittock SJ, Klein CJ, McKeon A. Neurology. 2019 Sep 3; 93(10):e954-e963. Epub 2019 Aug 1.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. [Am J Hum Genet. 2016]
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, et al. Am J Hum Genet. 2016 Dec 1; 99(6):1368-1376. Epub 2016 Nov 23.

RefSeq genomic sequence
See the genomic reference sequence for the AP3B2 gene (NG_052957.1).
RefSeq protein isoforms
See 5 reference sequence protein isoforms for the AP3B2 gene.

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Q13367 [Domain Mapping of Disease Mut...]
Q13367
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]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=AP-3 complex subunit beta-2; AltName: Full=Adaptor protein complex...
RecName: Full=AP-3 complex subunit beta-2; AltName: Full=Adaptor protein complex AP-3 subunit beta-2; AltName: Full=Adaptor-related protein complex 3 subunit beta-2; AltName: Full=Beta-3B-adaptin; AltName: Full=Clathrin assembly protein complex 3 beta-2 large chain; AltName: Full=Neuron-specific vesicle coat protein beta-NAP
gi|18202497|sp|Q13367.2|AP3B2_HUMAN

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