ENTREP1 Chromosome 9
Endosomal transmembrane epsin interactor 1
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What This Gene Does
Enables ubiquitin ligase activator activity. Involved in CXCL12-activated CXCR4 signaling pathway and negative adaptation of signaling pathway. Located in endosome membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140208683 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144596205 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145135759 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150027118 | Health Risk | Conflicting classifications of pathogenicity | — |