Actin-related protein T1 (ACTRT1)

Actin-related protein T1 is a testis-enriched cytoskeletal protein involved in organizing the junction between the sperm head and flagellum, essential for sperm integrity and motility. It is expressed mainly in the pericentriolar material (PCM) of spermatozoa and regulates Hedgehog pathway signaling by negative modulation. Genetic defects in ACTRT1—including point mutations and insertions—cause acephalic spermatozoa syndrome, which manifests as male infertility due to sperm head-tail separation. Mutations have also been linked with Bazex-Dupré-Christol syndrome, a rare hereditary disorder affecting hair, skin, and potentially other structures. ACTRT1 has a single-exon transcript encoding a 376-amino acid protein. Functional studies in knockout mice confirm its role in sperm cell formation, with knockouts causing headless sperm phenotypes and altered testicular proteome. There is no current evidence to suggest ACTRT1 is a receptor, enzyme, transporter, or transcription factor, nor is it a direct drug target.

Other names

ARPT1ARP-T1HSD27AIP1KIAA0705ARIP1