ACTB actin beta
Gene ID: 60, updated on 11-Apr-2024Gene type: protein coding
Also known as: BNS; CSMH; DDS1; THC8; BKRNS; BRWS1; PS1TP5BP1
- See all available tests in GTR for this gene
- Go to complete Gene record for ACTB
- Go to Variation Viewer for ACTB variants
Summary
This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Baraitser-Winter syndrome 1 | See labs |
| Becker nevus syndrome | See labs |
| Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. GeneReviews: Not available | |
| Developmental malformations-deafness-dystonia syndrome | See labs |
| Thrombocytopenia 8, with dysmorphic features and developmental delay | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2022-02-08) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 7p22.1
- Sequence:
- Chromosome: 7; NC_000007.14 (5527148..5530601, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ACTB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ACTB database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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