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 |