PAGR1 Chromosome 16
PAXIP1 associated glutamate rich protein 1
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What This Gene Does
Enables nuclear estrogen receptor binding activity. Involved in positive regulation of cell cycle G1/S phase transition; positive regulation of intracellular estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in nucleus. Part of MLL3/4 complex. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
lethal neurodevelopmental disorder
Neurodevelopmental disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375215655 | Health Risk | Conflicting classifications of pathogenicity | lethal neurodevelopmental disorder, Neurodevelopmental disorder, lethal neurodevelopmental disorder |