Details for Gene PGRMC1

GENE NAME PGRMC1
CHROMOSOME X
ENSEMBL ID None
ENTREZ ID ENSG00000101856
UNIPROT ACCESSION NUMBER O00264
GO MOLECULAR FUNCTION ['protein homodimerization activity', 'heme binding', 'protein binding', 'steroid binding', 'amyloid-beta binding', 'metal ion binding']
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-168249; R-HSA-168256; R-HSA-6798695
2 combinations linked to PGRMC1 OLI1730; OLI1729
1 variant linked to PGRMC1 PGRMC1:c.533C>T, p.Thr178Ile
1 disease linked to PGRMC1 Primary ovarian failure

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