actin-like 6B, isoform CRA_d [Homo sapiens]

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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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actin-like 6B, isoform CRA_d [Homo sapiens]
actin-like 6B, isoform CRA_d [Homo sapiens]
gi|119596911|gb|EAW76505.1||gnl|WGS |hCP1920869

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