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Gene : ACTG1 Homo sapiens

Name  ? actin gamma 1 Cytological Location  17q25.3
Brief Description  actin gamma 1
Description  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. [provided by RefSeq, Jul 2017]
  • synonyms:
  • OTTHUMG00000177955,
  • uc002kal.3,
  • deafness, autosomal dominant 26,
  • HEL-176,
  • ACTG,
  • DFNA26,
  • ACT,
  • NM_001614,
  • DFNA20,
  • DFNA26,
  • deafness, autosomal dominant 20,
  • ACTG,
  • DFNA20,
  • ACTG1,
  • HGNC:144
  • identifiers:
  • 71,
  • ENSG00000184009,
  • ACTG1

Genome feature

Region: gene ? Length: 2829  
Location: 17:81509971-81512799 reverse strand Cyto location: 17q25.3

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2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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976 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results