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Article

Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

Clinical genetics - 1 Oct 2026

Zheng Yantong, Zhang Yingteng, Ren Keyu, Jiang Chuan, Yang Yihong, Tian Yunchuan, Ouyang Di, Wang Xiang, Shen Ying

Abstract excerpt

Male infertility, often caused by structural and functional sperm defects, remains genetically unexplained in a substantial proportion of cases. ATP1A4 encodes a testis-specific isoform of the Na+, K+-ATPase, a membrane enzyme crucial for maintaining cellular ionic homeostasis. Previous studies on Atp1a4 knockout mice have demonstrated severe defects in sperm motility and flagellar architecture; however, the...

Read the complete abstract on PubMed

Topics

Male
Humans
Sodium-Potassium-Exchanging ATPase
Infertility, Male
Animals
Mice

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Asthenozoospermia

Spermatozoa

Sperm Motility

Oligospermia

Alleles

Genetic Predisposition to Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 42381520
DOI: 10.1111/cge.70205
PMCID: PMC13533876

Genes

ATP1A4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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