About: NR5A1 wt Allele     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • NR5A1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 184757
GenBank_Accession_Number
  • D88155
Semantic_Type
  • Gene or Genome
Preferred_Name
  • NR5A1 wt Allele
UMLS_CUI
  • C2698421
EntrezGene_ID
  • 2516
Legacy_Concept_Name
  • NR5A1_wt_Allele
HGNC_ID
  • HGNC:7983
FULL_SYN
  • NR5A1 wt AllelePTNCI
  • SF1SYNCI
  • ELPSYNCI
  • SF-1SYNCI
  • FTZ1SYNCI
  • Nuclear Receptor Subfamily 5, Group A, Member 1 wt AlleleSYNCI
  • AD4BPSYNCI
  • FTZF1SYNCI
DEFINITION
  • Human NR5A1 wild-type allele is located in the vicinity of 9q33 and is approximately 26 kb in length. This allele, which encodes steroidogenic factor 1 protein, is involved in the activation of transcription for genes that are associated with steroid processing. Mutations in the gene are a factor in both XY sex reversal with or without adrenal failure and adrenocortical insufficiency without ovarian defect.NCI
code
  • C75871
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