Epididymal Secretory Protein Binding Protein 1 (EMBP1) is a gene predominantly expressed in the epididymis, where it encodes a protein critical for the post-testicular maturation of spermatozoa. As a member of the epididymis-specific secretory protein-binding family, EMBP1 functions primarily within epididymal epithelial cells by selectively binding and transporting epididymal secretory proteins, which are essential for establishing the specialized microenvironment required for sperm motility, survival, and fertilization capacity. Through these interactions, EMBP1 modulates the local protein landscape to facilitate the functional maturation of sperm, and disruptions in its expression or function—such as mutations that impair binding affinity, overexpression that disrupts secretory balance, or underexpression that deprives sperm of necessary maturation signals—can compromise sperm quality and contribute to male infertility. Consequently, EMBP1 serves as a key regulator in the male reproductive system, and its aberrant expression has been linked to specific cases of male infertility characterized by sperm dysfunction, highlighting its potential as a molecular target for diagnosing and treating related reproductive disorders.
| Disease | Score | NofPmids | NofSnps | Source |
| Malignant neoplasm of breast | 0.12 | 2 | 1 | GWASCAT |
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