ACTL6A Chromosome 3
Actin like 6A
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What This Gene Does
This gene encodes a family member 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 53 kDa subunit protein 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. Together with beta-actin, it is required for maximal ATPase activity of BRG1, and for the association of the BAF complex with chromatin/matrix. Three transcript variants that encode two different protein isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"INO80 complex|SRCAP complex subunits|Actin related proteins|BAF complex subunits|PBAF complex subunits|GBAF complex subunits|Tip60/Nua4 histone acetyltransferase complex subunits"
Locus Type
gene with protein product
Location
3q26.33
Ensembl
ENSG00000136518
Associated Conditions (7)
Inborn genetic diseases
Familial thoracic aortic aneurysm and aortic dissection
13 conditions
ACTL6A-related BAFopathy
BAFopathy
ACTL6A-related intellectual disability
autosomal dominant
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201010303 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Familial thoracic aortic aneurysm and aortic dissection, Inborn genetic diseases |
| RS868064163 | Health Risk | Conflicting classifications of pathogenicity | 13 conditions, ACTL6A-related BAFopathy, BAFopathy |