Actin Gamma 1 (ACTg1)

ACT; ACTB; DFNA20; DFNA26; deafness, autosomal dominant 20; deafness, autosomal dominant 26; Actin, cytoplasmic 2

SPN	V443
HGNC	144
MGI	87906
PubMed	14684684
RGD	1304556
UniProt	P63261
Wiki	ACTG1

Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified.

Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in nonmuscle cells.Defects in ACTG1 are the cause of non-syndromic sensorineural deafness autosomal dominant type 20 (DFNA20); also called autosomal dominant deafness type 26 (DFNA26).

DFNA20 is a form of 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.

Reference

"Nucleotide sequence of the human gamma cytoskeletal actin mRNA: anomalous evolution of vertebrate non-muscle actin genes."
Nucleic Acids Res. 14:5275-5294(1986) [PubMed] [Europe PMC] [Abstract]

"Structure, chromosome location, and expression of the human gamma-actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes."
Mol. Cell. Biol. 8:1775-1789(1988) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]