RecName: Full=Steroidogenic factor 1; Short=SF-1; Short=STF-1; Short=h - Protein

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Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. [EBioMedicine. 2024]
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C, Sommer G, Martinez de Lapiscina I, Elzenaty RN, Tack LJW, Cools M, Ahmed SF, Flück CE, SF1next study group. EBioMedicine. 2024 Jan; 99:104941. Epub 2024 Jan 1.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development. [Am J Med Genet A. 2024]
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Del Gobbo GF, Wang X, Couse M, Mackay L, Goldsmith C, Marshall AE, Liang Y, Lambert C, Zhang S, Dhillon H, et al. Am J Med Genet A. 2024 May; 194(5):e63522. Epub 2023 Dec 22.
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study. [Eur J Endocrinol. 2024]
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Cools M, Grijp C, Neirinck J, Tavernier SJ, Schelstraete P, Van De Velde J, Morbée L, De Baere E, Bonroy C, van Bever Y, et al. Eur J Endocrinol. 2024 Jan 3; 190(1):34-43.

RefSeq genomic sequence
See the genomic reference sequence for the NR5A1 gene (NG_008176.1).
RefSeq protein
See the reference protein sequence for steroidogenic factor 1 (NP_004950.2).

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Q13285 [Domain Mapping of Disease Mut...]
Q13285
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Steroidogenic factor 1; Short=SF-1; Short=STF-1; Short=hSF-1; AltN...
RecName: Full=Steroidogenic factor 1; Short=SF-1; Short=STF-1; Short=hSF-1; AltName: Full=Adrenal 4-binding protein; AltName: Full=Fushi tarazu factor homolog 1; AltName: Full=Nuclear receptor subfamily 5 group A member 1; AltName: Full=Steroid hormone receptor Ad4BP
gi|3121738|sp|Q13285.2|STF1_HUMAN

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