Article
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.
Journal of medical genetics - 1 Feb 2023
Liu Wensheng, Wei Xiaoli, Liu Xiaoyan, Chen Gaowen, Zhang Xiaoya, Liang Xiaomei, Isachenko Vladimir, Sha Yanwei, Wang Yifeng
Abstract excerpt
BACKGROUND: Asthenozoospermia is a major factor contributing to male infertility. The mitochondrial sheath (MS), an important organelle in the midpiece of spermatozoa, is crucial to sperm motility. ARMC12 is a mitochondrial peripheral membrane protein. Deletion of Armc12 impairs the arrangement of MS and causes infertility in mice. However, the role of ARMC12 in human asthenozoospermia remains unknown. OBJECTIVE:...
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