10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionpositive regulation of transcription by RNA polymerase IIRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificneurodegenerative diseaseesophageal ulcerfolate deficiencyfetal growth restriction
GCM1 is a transcription factor essential for placental development that acts as a master regulator of trophoblast differentiation 1. It directly activates placenta-specific genes including placental growth factor (PGF) through binding to GCM1-binding sites in gene promoters 2. GCM1 mediates differentiation along both villous and extravillous trophoblast pathways, with its activity antagonized by the stemness factor ΔNp63α; the balance between these factors determines whether trophoblasts remain as stem cells or differentiate 1. GCM1 expression is downregulated under hypoxic conditions (1-2% O₂), characteristic of early placental development, which maintains trophoblast stem cell self-renewal; conversely, GCM1 upregulation is required for syncytiotrophoblast and extravillous trophoblast formation 3. GCM1 regulates critical differentiation genes including CKMT1 and CDKN1C (contact inhibition factor) 13. Clinically, reduced GCM1 expression is associated with preeclampsia and impaired placental development 24. Loss of GCM1 or reduced androgen exposure compromises trophoblast differentiation, contributing to placental dysfunction in conditions like polycystic ovary syndrome 4. These findings establish GCM1 as a central regulatory hub controlling the stemness-differentiation transition in human placental development.
1
GCM1 antagonism with ΔNp63α regulates trophoblast stemness/differentiation balance; GCM1 targets CKMT1 crucial for syncytiotrophoblast differentiation
PMID: 353381522
GCM1 downregulation under hypoxia maintains trophoblast stem cell self-renewal; GCM1 required for syncytiotrophoblast and extravillous trophoblast formation; GCM1 regulates CDKN1C for contact inhibition
PMID: 402801393
GCM1 upregulates placental growth factor (PGF) expression through binding to GCM1-binding sites; reduced PGF associated with preeclampsia and placental hypoxia
PMID: 297432414
Reduced GCM1 expression associated with impaired syncytiotrophoblast and sinusoidal trophoblast giant cell formation; elevated androgens in PCOS downregulate GCM1 compromising trophoblast differentiation
PMID: 39075722⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
esophageal ulcerOpen Targets
folate deficiencyOpen Targets
fetal growth restrictionOpen Targets
neural tube defectOpen Targets
smoking initiationOpen Targets
heart diseaseOpen Targets
Abnormality of the skeletal systemOpen Targets
gastric cancerOpen Targets
type 2 diabetes mellitusOpen Targets
diabetes mellitusOpen Targets
placenta diseaseOpen Targets
colorectal cancerOpen Targets
hypertension, pregnancy-inducedOpen Targets
acute kidney injuryOpen Targets
Granular Cell TumorOpen Targets
No pathogenic variants reported on ClinVar for this gene.