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A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects.

Human molecular genetics - 26 Jun 2026

Xu Zhenhan, Lu Na, Guo Jintao, Lv Linyan, Hu Yun, Sun Guihua, Chen Haicheng, Xu Linan, Zeng Haitao, Liu Guihua

Abstract excerpt

Numerous actin-related proteins (ARPs) deficiencies have been confirmed to cause sperm acrosomal structural abnormalities, representing significant genetic factors in male infertility. We identified a patient with a missense mutation in ACTRT3, who presented with teratozoospermia and experienced embryonic developmental arrest following intracytoplasmic sperm injection (ICSI). Further analysis revealed...

Topics

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Fertilization
Infertility, Male
Mice, Knockout
Mice, Transgenic
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sperm Injections, Intracytoplasmic

Source

Identifiers

PMID: 42391565
DOI: 10.1093/hmg/ddag057

Genes

ACTRT3
PLCZ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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A novel gene ACTRT3 mutations induce sperm malformations and fertilization failure via Acrosomal ultrastructural defects.PMID 42391565Read ↗

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