Gene: ACTG1
Alternate names for this Gene: ACT|ACTG|DFNA20|DFNA26|HEL-176
Gene Summary: Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 17
Location in Chromosome : 17q25.3
Description of this Gene: actin gamma 1
Type of Gene: protein-coding
Gene: FSCN2
Alternate names for this Gene: RFSN|RP30
Gene Summary: This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 17
Location in Chromosome : 17q25.3
Description of this Gene: fascin actin-bundling protein 2, retinal
Type of Gene: protein-coding
rs11549190 in
ACTG1;FSCN2 gene and
BARAITSER-WINTER SYNDROME 2
PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
rs281875330 in
ACTG1;FSCN2 gene and
Deafness, Autosomal Dominant 20
PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
PMID 14684684 2003 A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).
PMID 16773128 2006 A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).
PMID 18804074 2008 Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
PMID 22938506 2012 Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
PMID 19477959 2009 In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.