gene: ACTG1

organismHomo sapiens
full nameactin gamma 1
summaryActins 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. [provided by RefSeq, Jul 2017]

NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) AND Baraitser-Winter Syndrome 2

NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) AND Deafness, autosomal dominant 20

NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) AND Deafness, autosomal dominant 20

NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) AND Deafness, autosomal dominant 20

NM_001614.5(ACTG1):c.177G>A (p.Gln59=) AND not specified

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