protein
Actin, cytoplasmic 2
Gene
ACTG1
Organism
Homo sapiens(9606)
Length
375 aa
Mass
41,793 Da
Actin, cytoplasmic 2 (ACTG1) is a highly conserved protein involved in cell motility and cytoskeletal dynamics across all eukaryotic cells (UniProt: P63261). The protein may contribute to stereocilia repair and maintenance of hearing sensitivity following acoustic damage.
ACTG1 is ubiquitously expressed in tissues throughout the body. UniProt disease associations include autosomal dominant deafness (DFNA20) and Baraitser-Winter syndrome 2, a rare developmental disorder characterized by lissencephaly, intellectual disability, and hearing loss (UniProt: P63261).
In Alzheimer's disease, ACTG1 is downregulated in post-mortem AD brain tissue compared to age-matched controls, with a mean log2 fold-change of −0.62 (Chaparral AD proteomics). This reduction was observed in a TMT-labeled quantitative proteomics experiment examining four subcellular fractions, suggesting altered cytoskeletal organization may contribute to AD pathology.
Generated from the curated entity record below. May contain errors — verify against source links.
Proteomics Evidence · AD
↓ Down in ADP3
not detected
P2
not detected
S2
-0.617
S3
not detected
Mean log₂FC across detected fractions: -0.6171 (1 of 4 fractions detected)
Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.
Related Publications
Browse all →Tau molecular diversity contributes to clinical heterogeneity in Alzheimer's disease.
Dujardin Simon et al.Nature medicine2020PMID 32572268Deep Multilayer Brain Proteomics Identifies Molecular Networks in Alzheimer's Disease Progression.
Bai Bing et al.Neuron2020PMID 31926610A Multi-network Approach Identifies Protein-Specific Co-expression in Asymptomatic and Symptomatic Alzheimer's Disease.
Seyfried Nicholas T et al.Cell systems2017PMID 27989508Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level.
Johnson Erik C B et al.Nature neuroscience2022PMID 35115731Organization and regulation of gene transcription.
Cramer PatrickNature2019PMID 31462772
Function
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. May play a role in the repair of noise-induced stereocilia gaps thereby maintains hearing sensitivity following loud noise damage (By similarity)
Disease associations
Deafness, autosomal dominant, 20DFNA20
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Baraitser-Winter syndrome 2BRWS2
A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.
Sources
Last updated 5/8/2026, 6:37:26 AM