ACTL6B

Chr 7ARAD

actin like 6B

Also known as: ACTL6, BAF53B, DEE76, EIEE76, IDDSSAD, SMARCN2, arpNalpha

NCBI Gene: 51412 ENSG00000077080 UniProt: O94805 OMIM: 612458

ACTL6B encodes a subunit of the neuron-specific BAF chromatin remodeling complex that is essential for neuronal maturation and dendrite development by altering DNA-histone contacts in an ATP-dependent manner. Mutations cause developmental and epileptic encephalopathy or intellectual developmental disorder with severe speech and ambulation defects. The gene shows both autosomal recessive and autosomal dominant inheritance patterns.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 76MIM #618468

Intellectual developmental disorder with severe speech and ambulation defectsMIM #618470

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.65

LOEUF

LOF*

Mechanism· G2P