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FLASH GENE

Symbol

NR5A1

contributors: shn/mct - updated : 12-07-2022

HGNC name	nuclear receptor subfamily 5, group A, member 1
HGNC id	7983

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SRA3 , POF4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   lower in the SRY-negative XX testes than in XY testes constitutional       loss of function abrogates the testicular pathway and induces the ectopic ovarian pathway, resulting in postnatal partial/complete male-to-female gonadal sex reversal

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Ovaries of NR5A1+ females presented defects such as multi-oocyte follicles and an accumulation of corpora lutea