About: NHEJ1 wt Allele     Goto   Sponge   Distinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • NHEJ1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 611290
GenBank_Accession_Number
  • AJ972687
Semantic_Type
  • Gene or Genome
Preferred_Name
  • NHEJ1 wt Allele
UMLS_CUI
  • C2982011
EntrezGene_ID
  • 79840
HGNC_ID
  • HGNC:25737
FULL_SYN
  • Nonhomologous End-Joining Factor 1 wt AlleleSYNCI
  • Cernunnos GeneSYNCI
  • NHEJ1 wt AllelePTNCI
  • XLFSYNCI
  • FLJ12610SYNCI
DEFINITION
  • NCIHuman NHEJ1 wild-type allele is located in the vicinity of 2q35 and is approximately 85 kb in length. This allele, which encodes nonhomologous end-joining factor 1 protein, plays a role in the mediation of both V(D)J recombination and the repair of damaged DNA. Mutation of the gene is involved in a form of severe combined immunodeficiency.
code
  • C88514
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