progesterone receptor membrane component 1
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Moderate Evidence (Amber)
Bilateral congenital or childhood onset cataracts
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesPrimary ovarian insufficiency
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)neurodegenerative disease
Total congenital cataract
total early-onset cataract
genetic non-acquired premature ovarian failure
Hodgkins lymphoma
premature menopause
cataract
Premature ovarian insufficiency
breast cancer
breast carcinoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Membrane-associated progesterone receptor component 1
Component of a progesterone-binding protein complex (PubMed:28396637). Binds progesterone (PubMed:25675345). Has many reported cellular functions (heme homeostasis, interaction with CYPs). Required for the maintenance of uterine histoarchitecture and normal female reproductive lifespan (By similarity). Intracellular heme chaperone. Regulates heme synthesis via interactions with FECH and acts as a heme donor for at least some hemoproteins (PubMed:27599036). Forms a ternary complex with TMEM97 receptor and low density lipid receptor/LDLR, which increases LDLR-mediated LDL lipoprotein internalization (PubMed:30443021)
PGRMC1 · O00264
Mean pLDDT
83.8/ 100
Confident
195 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
