RecName: Full=Actin-like protein 6B; AltName: Full=53 kDa BRG1-associa - Protein

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An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model. [J Neurosci Res. 2021]
An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model.
Ahn LY, Coatti GC, Liu J, Gumus E, Schaffer AE, Miranda HC. J Neurosci Res. 2021 Jan; 99(1):110-123. Epub 2020 Nov 3.
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. [Am J Med Genet A. 2019]
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
Yüksel Z, Yazol M, Gümüş E. Am J Med Genet A. 2019 Aug; 179(8):1603-1608. Epub 2019 May 27.
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy. [Hum Genet. 2019]
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, et al. Hum Genet. 2019 Feb; 138(2):187-198. Epub 2019 Jan 17.

RefSeq protein
See the reference protein sequence for actin-like protein 6B (NP_057272.1).

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O94805 [Domain Mapping of Disease Mut...]
O94805
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
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

RecName: Full=Actin-like protein 6B; AltName: Full=53 kDa BRG1-associated factor...
RecName: Full=Actin-like protein 6B; AltName: Full=53 kDa BRG1-associated factor B; AltName: Full=Actin-related protein Baf53b; AltName: Full=ArpNalpha; AltName: Full=BRG1-associated factor 53B; Short=BAF53B
gi|23396462|sp|O94805.1|ACL6B_HUMAN

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