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Article

Bi-allelic mutations of CAMSAP1 result in teratozoospermia with sperm head and flagella defects in humans.

Human reproduction (Oxford, England) - 1 Jul 2026

Zheng Rui, Yan Jierui, Zhi Weiwei, Huang Gelin, Du Xinrong, Zhang Huan, Shaiq Pakeeza Arzoo, Tan Yueqiu, Tu Chaofeng, Shi Qinghua, Xu Wenming

Abstract excerpt

STUDY QUESTION: What is the role of calmodulin-regulated spectrin-associated protein 1 (CAMSAP1) in human spermatogenesis? SUMMARY ANSWER: Biallelic CAMSAP1 variants cause human male infertility with multiple sperm head deformities and MMAF-like phenotypes by disrupting manchette microtubule dynamics and the microtubule-spectrin-actin scaffold essential for sperm head shaping. WHAT IS KNOWN ALREADY: Sperm head...

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Source

Identifiers

PMID: 42114970
DOI: 10.1093/humrep/deag071

Genes

CAMSAP1
CALM1
SPTBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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