ACTL6B Chromosome 7
Actin like 6B
Upload your DNA to see your personal genotypes for variants in ACTL6B.
What This Gene Does
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]
Gene Info
Gene Group
"Actin related proteins|BAF complex subunits|PBAF complex subunits|GBAF complex subunits"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000077080
Associated Conditions (13)
Developmental and epileptic encephalopathy
76
ACTL6B-related recessive epilepsy
ACTL6B-related BAFopathy
Intellectual disability
Global developmental delay
Intellectual developmental disorder with severe speech and ambulation defects
Autism
ACTL6B-related dominant intellectual disability
Inborn genetic diseases
ACTL6B-related neurodevelopmental disorder
ACTL6B-related disorder
Autism spectrum disorder
Key Variants
RS1584466132
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy
Health Risk
RS747962927
Conflicting classifications of pathogenicity
Health Risk
RS772520618
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy
Health Risk
RS1060499738
Likely pathogenic
Intellectual disability, Global developmental delay, Developmental and epileptic encephalopathy
Health Risk
RS1131692228
Likely pathogenic
Intellectual developmental disorder with severe speech and ambulation defects, Autism, ACTL6B-related dominant intellectual disability
Health Risk
RS1264977781
Likely pathogenic
Intellectual developmental disorder with severe speech and ambulation defects, Intellectual developmental disorder with severe speech and ambulation defects
Health Risk
RS1304756557
Likely pathogenic
ACTL6B-related BAFopathy, ACTL6B-related BAFopathy
Health Risk
RS141640000
Likely pathogenic
Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy
Health Risk
RS1562846694
Likely pathogenic
ACTL6B-related neurodevelopmental disorder, ACTL6B-related neurodevelopmental disorder
Health Risk
RS1562848425
Likely pathogenic
Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy
Health Risk
RS1562848556
Likely pathogenic
Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy
Health Risk
RS1562848568
Likely pathogenic
Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1584466132 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS747962927 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772520618 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS1060499738 | Health Risk | Likely pathogenic | Intellectual disability, Global developmental delay, Developmental and epileptic encephalopathy |
| RS1131692228 | Health Risk | Likely pathogenic | Intellectual developmental disorder with severe speech and ambulation defects, Autism, ACTL6B-related dominant intellectual disability |
| RS1264977781 | Health Risk | Likely pathogenic | Intellectual developmental disorder with severe speech and ambulation defects, Intellectual developmental disorder with severe speech and ambulation defects |
| RS1304756557 | Health Risk | Likely pathogenic | ACTL6B-related BAFopathy, ACTL6B-related BAFopathy |
| RS141640000 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS1562846694 | Health Risk | Likely pathogenic | ACTL6B-related neurodevelopmental disorder, ACTL6B-related neurodevelopmental disorder |
| RS1562848425 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS1562848556 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS1562848568 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS1562848909 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS1584466163 | Health Risk | Likely pathogenic | ACTL6B-related recessive epilepsy, ACTL6B-related recessive epilepsy |
| RS1584468817 | Health Risk | Likely pathogenic | ACTL6B-related recessive epilepsy, ACTL6B-related recessive epilepsy |
| RS1803825502 | Health Risk | Likely pathogenic | — |
| RS2131333059 | Health Risk | Likely pathogenic | — |
| RS2131334839 | Health Risk | Likely pathogenic | Intellectual developmental disorder with severe speech and ambulation defects, Intellectual developmental disorder with severe speech and ambulation defects |
| RS2131334898 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS2486158089 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS2486158097 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS2486158174 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS2486163472 | Health Risk | Likely pathogenic | Intellectual developmental disorder with severe speech and ambulation defects, Intellectual developmental disorder with severe speech and ambulation defects |
| RS2486170638 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS2486172329 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS2486172358 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS774562545 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS779321230 | Health Risk | Likely pathogenic | — |
| RS779550102 | Health Risk | Likely pathogenic | ACTL6B-related recessive epilepsy, ACTL6B-related BAFopathy, Developmental and epileptic encephalopathy |
| RS929755522 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS955171017 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS1373783639 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS1562847909 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS1562848142 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS1803908698 | Health Risk | Pathogenic | — |
| RS2131333638 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2131334872 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2131335747 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2131335751 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2486160760 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS2486170751 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS746964903 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS766897181 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS986702153 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1584468891 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |
| RS755138493 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 76, Developmental and epileptic encephalopathy |
| RS998928845 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 76, ACTL6B-related recessive epilepsy |