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

rs104894545 in ACTG1 gene and Deafness, Autosomal Dominant 20 PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PMID 19477959 2009 In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

PMID 14684684 2003 A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).

PMID 18804074 2008 Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.

PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PMID 22938506 2012 Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

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.

rs1555666392 in ACTG1 gene and Dysmorphic features PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 9665849 1998 Domain motions in actin.

PMID 28496999 2017 The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

PMID 25624931 2015 Baraitser and Winter syndrome with growth hormone deficiency.

PMID 27625340 2017 Baraitser-Winter cerebrofrontofacial syndrome.

PMID 2395459 1990 Atomic structure of the actin:DNase I complex.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 26188271 2015 Rare ACTG1 variants in fetal microlissencephaly.

PMID 19419963 2009 Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PMID 28493397 2017 A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

PMID 15194427 2004 A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly.

rs1555666392 in ACTG1 gene and Multiple congenital anomalies PMID 28493397 2017 A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

PMID 28496999 2017 The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

PMID 9665849 1998 Domain motions in actin.

PMID 27625340 2017 Baraitser-Winter cerebrofrontofacial syndrome.

PMID 19419963 2009 Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction.

PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 25624931 2015 Baraitser and Winter syndrome with growth hormone deficiency.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 26188271 2015 Rare ACTG1 variants in fetal microlissencephaly.

PMID 2395459 1990 Atomic structure of the actin:DNase I complex.

PMID 15194427 2004 A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly.

rs1140892 in ACTG1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.