Actin, Beta

Alternative Names

  • ACTB
  • Beta-Actin
  • Actin, Cytoplasmic, 1

Associated Diseases

Baraitser-Winter Syndrome 1
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OMIM Number

102630

NCBI Gene ID

60

Uniprot ID

P60709

Length

3,454 bases

No. of Exons

6

No. of isoforms

1

Protein Name

Actin, cytoplasmic 1

Molecular Mass

41737 Da

Amino Acid Count

375

Genomic Location

chr7:5,527,147-5,530,600

Gene Map Locus
7p22.1

Description

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001101.3:c.217C>GArabNC_000007.14:g.5529307G>CLikely PathogenicLikely PathogenicBaraitser-Winter Syndrome 1NG_007992.1:g.6295C>G; NM_001101.3:c.217C>G; NP_001092.1:p.His73Asp786205585191218
NM_001101.3:c.773C>TUnited Arab EmiratesNC_000007.14:g.5528310G>ALikely PathogenicLikely PathogenicBaraitser-Winter Syndrome 1NG_007992.1:g.7292C>T; NM_001101.3:c.773C>T; NP_001092.1:p.Pro258Leu1554329281545067
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