Ask about this productRelated genes to: KIAA1430 antibody
- Gene:
- CFAP97 NIH gene
- Name:
- cilia and flagella associated protein 97
- Previous symbol:
- KIAA1430
- Synonyms:
- DKFZp434F1728, hmw
- Chromosome:
- 4q35.1
- Locus Type:
- gene with protein product
- Date approved:
- 2004-04-21
- Date modifiied:
- 2018-11-15
Related products to: KIAA1430 antibody
Related articles to: KIAA1430 antibody
- Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia across various organs, leading to recurrent respiratory infections, subfertility, and laterality defects. While several diagnostic tools exist-such as high-speed video microscopy, immunofluorescence staining, electron microscopy, and genetic screening-the relationship between different pathogenic variants within a single PCD gene and their effects on ciliary composition, structure, and clinical phenotype remains poorly understood. - Source: PubMed
Publication date: 2025/07/17
de Ceuninck van Capelle CharlotteLuo LeoLeitner AlexanderTschanz Stefan ALatzin PhilippOtt SebastianHerren TobiasMüller LorettaIshikawa Takashi - The flagellum is essential for sperm motility and fertilization in vivo. The axoneme is the main component of the flagella, extending through its entire length. An axoneme is comprised of two central microtubules surrounded by nine doublets, the nexin-dynein regulatory complex, radial spokes, and dynein arms. Failure to properly assemble components of the axoneme in a sperm flagellum, leads to fertility alterations. To understand this process in detail, we have defined the function of an uncharacterized gene, Cfap97 domain containing 1 (Cfap97d1). This gene is evolutionarily conserved in mammals and multiple other species, including Chlamydomonas. We have used two independently generated Cfap97d1 knockout mouse models to study the gene function in vivo. Cfap97d1 is exclusively expressed in testes starting from post-natal day 20 and continuing throughout adulthood. Deletion of the Cfap97d1 gene in both mouse models leads to sperm motility defects (asthenozoospermia) and male subfertility. In vitro fertilization (IVF) of cumulus-intact oocytes with Cfap97d1 deficient sperm yielded few embryos whereas IVF with zona pellucida-free oocytes resulted in embryo numbers comparable to that of the control. Knockout spermatozoa showed abnormal motility characterized by frequent stalling in the anti-hook position. Uniquely, Cfap97d1 loss caused a phenotype associated with axonemal doublet heterogeneity linked with frequent loss of the fourth doublet in the sperm stored in the epididymis. This study demonstrates that Cfap97d1 is required for sperm flagellum ultra-structure maintenance, thereby playing a critical role in sperm function and male fertility in mice. - Source: PubMed
Publication date: 2020/08/12
Oura SeiyaKazi SaminaSavolainen AudreyNozawa KaoriCastañeda JulioYu ZhifengMiyata HaruhikoMatzuk Ryan MHansen Jan NWachten DagmarMatzuk Martin MPrunskaite-Hyyryläinen Renata