Terminology Service for NFDI4Health

NR5A1 wt Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C75871


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. [ ]

Term info

Label

NR5A1 wt Allele

Synonyms
  • AD4BP
  • ELP
  • FTZ1
  • FTZF1
  • NR5A1 wt Allele
  • Nuclear Receptor Subfamily 5, Group A, Member 1 wt Allele
  • SF-1
  • SF1
Legacy Concept Name

NR5A1_wt_Allele

OMIM Number

184757

Preferred Name

NR5A1 wt Allele

Semantic Type

Gene or Genome

UMLS CUI

C2698421

code

C75871