ACTG1 Gene: Actin Gamma 1 - Function, Disease Associations, and Clinical Significance
Comprehensive guide to ACTG1 (Actin Gamma 1), including gene structure, expression, mutations, and linked disorders such as Baraitser-Winter syndrome and nonsyndromic hearing loss.
Gene Information Card
| Symbol | ACTG1 |
|---|---|
| Full Name | Actin Gamma 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 71 ncbi.nlm.nih.gov/gene/71 |
| Ensembl ID | ENSG00000184009 |
| UniProt ID | P63261 |
| OMIM ID | 102560 |
| HGNC ID | 144 |
| Aliases | ACTG, DFNA20, DFNA26, HEL-176 |
Description
The ACTG1 gene encodes gamma-actin, a ubiquitous cytoskeletal protein that forms microfilaments essential for cell structure, motility, and intracellular transport. Mutations in ACTG1 are associated with autosomal dominant nonsyndromic hearing loss (DFNA20/26) and Baraitser-Winter syndrome, a developmental disorder characterized by facial dysmorphism and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Baraitser-Winter syndrome | Missense mutations in ACTG1 disrupt actin polymerization, affecting neuronal migration and leading to cortical malformations. | ClinVar, OMIM |
| Autosomal dominant nonsyndromic sensorineural hearing loss (DFNA20/26) | Mutations in the actin gamma 1 protein impair cochlear hair cell stereocilia structure, causing progressive hearing loss. | ClinVar, OMIM |
| Actin-related developmental disorders | Variants may affect actin dynamics, leading to diverse developmental phenotypes. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Muscle (skeletal) | High | High |
| Heart | High | High |
| Brain | Medium | Medium |
| Liver | Medium | Medium |
| Kidney | Medium | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Ubiquitous expression |
| A549 | High | Lung carcinoma |
| HepG2 | Medium | Liver carcinoma |
| K562 | Medium | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.617C>T (p.Thr206Ile) | Missense | Rare | Associated with DFNA20/26 |
| c.112C>T (p.Arg38Cys) | Missense | Rare | Baraitser-Winter syndrome |
| c.272G>A (p.Arg91His) | Missense | Rare | Baraitser-Winter syndrome |
Mutation functional classification
Loss of Function (LOF)
Complete loss of ACTG1 is likely lethal; most pathogenic variants are missense with dominant effects.
Gain of Function (GOF)
Not typically described; mutations usually alter actin dynamics rather than enhance function.
Dominant Negative (DN)
Many disease-associated mutations act in a dominant-negative manner, disrupting actin polymerization and filament stability.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • structural constituent of cytoskeleton | • cytoskeleton organization |
| • cell motility | • muscle contraction |
Pathways
• Regulation of actin cytoskeleton
• Tight junction
• Adherens junction
• Focal adhesion
Protein Summary
Gamma-actin (ACTG1) is a major component of microfilaments in all eukaryotic cells. It participates in cell shape maintenance, division, migration, and intracellular trafficking. In the inner ear, it is critical for stereocilia integrity; mutations lead to progressive hearing loss. In the brain, it supports neuronal migration; mutations cause cortical malformations in Baraitser-Winter syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTG1 Knockout HEK293 Cell Line | EDJ-KQ50100 | Human | 71 | Details Get a Quote |
| ACTG1 Knockout HeLa Cell Line | EDJ-KQ52541 | Human | 71 | Details Get a Quote |
| ACTG1 Knockout A-549 Cell Line | EDJ-KQ61024 | Human | 71 | Details Get a Quote |
| ACTG1 Knockout HCT 116 Cell Line | EDJ-KQ69499 | Human | 71 | Details Get a Quote |
