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Article

Loss of SPACA1 function causes autosomal recessive globozoospermia by damaging the acrosome–acroplaxome complex

18 May 2021

Abstract excerpt

STUDY QUESTION: Is the sperm acrosome membrane-associated protein 1 (SPACA1) gene critical to human globozoospermia? SUMMARY ANSWER: The biallelic loss-of-function (variant of SPACA1) causes globozoospermia as a result of acrosome-acroplaxome complex damage. WHAT IS KNOWN ALREADY: SPACA1 expression decreases in patients with globozoospermia. Spaca1 gene-disrupted mice have abnormally shaped sperm heads that...

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PMID: 34172998
DOI: 10.1093/humrep/deab144

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