ACTG1 (Actin Gamma 1) is a Protein Coding gene. Diseases associated with ACTG1 include Deafness, Autosomal Dominant 20 and Baraitser-Winter Syndrome 2. Among its related pathways are Oxytocin signaling pathway and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include identical protein binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTB.
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These ACTG1 antibodies are validated in multiple tissues with various applications and covering a broad range of life science research and drug development. They are featured with high specificity, multiple epitopes recognition, and wide species reactivity. Moreover, CUSABIO provides various options on sizes, excellent technical support and ACTG1 antibodies custom service.
ACTG1 Antibodies for Homo sapiens (Human)
|Code||Product Name||Species Reactivity||Application|
|CSB-PA02619A0Rb||Human||ELISA, WB, IHC, IF|
The ACTG1 gene encodes the cytoskeletal protein gamma-actin, which plays an important role in determining cell shape and controlling cell movement. Gamma-actin protein also refers to as ACTG1. Human gamma-actin is 41.8 kDa in molecular weight and 375 amino acids in length. Gamma-actin is widely expressed in cellular cytoskeletons of many tissues, particularly abundant in the auditory hair cells of the cochlea . The hair cells are essential for normal hearing. Mutations in ACTG1 are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss . And Baraitser-Winter syndrome is also linked to ACTG1 mutations . Studies have identified ACTG1 with significantly high expression in skin cancer tissue and suggested that ACTG1 can regulate cell proliferation and migration through the ROCK signaling pathway . And other studies have shown that ACTG1 recurrent mutation leads to isolated ocular coloboma (OC), a defect in optic fissure closure that is a common cause of severe congenital visual impairment . Kevin J. Sonnemann et al. observed that skeletal muscle-specific cytoplasmic γ-Actin knockout (Actg1-msKO) mice dysfunctioned in whole-body tension and isometric twitch force, although their muscle development proceeded normally. They concluded that cytoplasmic γ-Actin is not required for skeletal muscle development but its absence leads to a progressive myopathy .
 Lee CG, Jang J, et al. A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report [J]. Mol Med Rep. 2018 Jun;17(6):7611-7617.
 Liu, P., Li, H., et al. Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family [J]. J Genets Genomics 35, 2008, 553-558.
 Riviere, J.B., van Bon, B.W., et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome [J]. Nat Genet 44, 2012, 440–444, S441-S442.
 Xinqian Dong Yingsheng Han, et al. Actin Gamma 1, a new skin cancer pathogenic gene, identified by the biological feature?based classification [J]. J Cell Biochem. 2018 Feb;119(2):1406-1419.
 Rainger J, Williamson KA, et al. A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma [J]. Hum Mutat. 2017 Aug;38(8):942-946.
 Zhu, M., Yang, T., Wei, et al. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26) [J]. Am. J. Hum. Genet. 2003, 73: 1082-1091.
 Sonnemann KJ, Fitzsimons DP, et al. Cytoplasmic gamma-actin is not required for skeletal muscle development but its absence leads to a progressive myopathy [J]. Developmental Cell. Sep. 2006, 11 (3): 387-97.