About: ACTA2 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • ACTA2 wt Allele
rdfs:subClassOf
OMIM_Number
  • 102620
GenBank_Accession_Number
  • X13839
Semantic_Type
  • Gene or Genome
Preferred_Name
  • ACTA2 wt Allele
NCI_META_CUI
  • CL438459
EntrezGene_ID
  • 59
HGNC_ID
  • HGNC:130
FULL_SYN
  • Actin, Alpha 2, Smooth Muscle, Aorta wt AlleleSYNCI
  • ACTA2 wt AllelePTNCI
  • AAT6SYNCI
  • GIG46SYNCI
  • ACTSASYNCI
  • ACTVSSYNCI
  • MYMY5SYNCI
DEFINITION
  • Human ACTA2 wild-type allele is located in the vicinity of 10q23.3 and is approximately 56 kb in length. This allele, which encodes actin, aortic smooth muscle protein, is involved in smooth muscle cell contraction. Mutations of this gene predispose patients to a variety of diffuse and diverse vascular diseases, including premature onset coronary artery disease, premature ischemic strokes, familial aortic aneurysm thoracic type 6, Moyamoya disease type 5 and multisystemic smooth muscle dysfunction syndrome.NCI
code
  • C103971
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