Details for Gene SRA1

GENE NAME SRA1
CHROMOSOME 5
ENSEMBL ID None
ENTREZ ID ENSG00000213523
UNIPROT ACCESSION NUMBER Q9HD15
GO MOLECULAR FUNCTION ['steroid receptor RNA activator RNA binding', 'nuclear receptor coactivator activity', 'transcription coactivator activity', 'DNA binding', 'protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS
8 combinations linked to SRA1 OLI1580; OLI1568; OLI654; OLI1566; OLI1565; OLI574; OLI018; OLI1324
7 variants linked to SRA1 SRA1:c.536T>C, p.Ile179Thr; SRA1:c.94C>G, p.Gln32Glu; SRA1:c.190C>A, p.Pro64Thr; SRA1:c.94C>G, p.Gln32Glu; SRA1:c.536T>C, p.Ile179Thr; SRA1:c.218C>T, p.Pro73Leu; SRA1:c.59C>T, p.Pro20Leu
4 diseases linked to SRA1 Disorder of sex development; Non-acquired combined pituitary hormone deficiency; Congenital hypogonadotropic hypogonadism; Syndrome with 46,XY disorder of sex development

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