CFAP69

Last update 08 May 2025

Basic Info

Synonyms

C7orf63, CFAP69, cilia and flagella associated protein 69

+ [3]

Introduction

Cilium- and flagellum-associated protein (PubMed:29606301). In the olfactory epithelium, regulates the speed of activation and termination of the odor response and thus contributes to the robustness of olfactory transduction pathways (By similarity). Required for sperm flagellum assembly and stability (PubMed:29606301).

100 Clinical Results associated with CFAP69

100 Translational Medicine associated with CFAP69

0 Patents (Medical) associated with CFAP69

Literatures (Medical) associated with CFAP69

01 Dec 2024·Journal of Assisted Reproduction and Genetics

Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms

Review

Author: Ma, Binyu ; Lv, Jing ; Wan, Yingjing ; He, Xuanyi ; Gao, Ying ; Hong, Zhidan ; Zhang, Ming ; Qin, Juling ; Wang, Mei ; Zhang, Jinyi

Early embryonic arrest (EEA) is a critical impediment in assisted reproductive technology (ART), affecting 40% of infertile patients by halting the development of early embryos from the zygote to blastocyst stage, resulting in a lack of viable embryos for successful pregnancy. Despite its prevalence, the molecular mechanism underlying EEA remains elusive. This review synthesizes the latest research on the genetic and molecular factors contributing to EEA, with a focus on maternal, paternal, and embryonic factors. Maternal factors such as irregularities in follicular development and endometrial environment, along with mutations in genes like NLRP5, PADI6, KPNA7, IGF2, and TUBB8, have been implicated in EEA. Specifically, PATL2 mutations are hypothesized to disrupt the maternal-zygotic transition, impairing embryo development. Paternal contributions to EEA are linked to chromosomal variations, epigenetic modifications, and mutations in genes such as CFAP69, ACTL7A, and M1AP, which interfere with sperm development and lead to infertility. Aneuploidy may disrupt spindle assembly checkpoints and pathways including Wnt, MAPK, and Hippo signaling, thereby contributing to EEA. Additionally, key genes involved in embryonic genome activation-such as ZSCAN4, DUXB, DUXA, NANOGNB, DPPA4, GATA6, ARGFX, RBP7, and KLF5-alongside functional disruptions in epigenetic modifications, mitochondrial DNA, and small non-coding RNAs, play critical roles in the onset of EEA. This review provides a comprehensive understanding of the genetic and molecular underpinnings of EEA, offering a theoretical foundation for the diagnosis and potential therapeutic strategies aimed at improving pregnancy outcomes.

01 Sep 2023·Journal of Assisted Reproduction and Genetics

A novel variant in CFAP69 causes asthenoteratozoospermia with treatable ART outcomes and a literature review

Review

Author: Long, Shunhua ; Tang, Xiangrong ; Lin, Tingting ; Huang, Guoning ; Yu, Haibing ; Ma, Jing ; Wang, Xinglin ; Wan, Ling ; Yang, Jigao

PURPOSEMultiple morphological abnormalities of the sperm flagella (MMAF) are a severe form of sperm defect causing male infertility. Previous studies identified the variants in the CFAP69 gene as a MMAF-associated factor, but few cases have been reported. This study was performed to identify additional variants in CFAP69 and describe the semen characteristics and outcomes of assisted reproductive technology (ART) in CFAP69-affected couples.METHODSGenetic testing with next-generation sequencing (NGS) panel of 22 MMAF-associated genes and Sanger sequencing was performed in a cohort of 35 infertile males with MMAF to identify pathogenic variants. Morphological, ultrastructural, and immunostaining analyses were performed to investigate the characteristics of probands' spermatozoa. ART with intracytoplasmic sperm injection (ICSI) was carried out for the affected couples to get their own progenies.RESULTSWe identified a novel frameshift variant in CFAP69 (c.2061dup, p. Pro688Thrfs*5) from a MMAF-affected infertile male with low sperm motility and malformed morphology of sperm. Furthermore, transmission electron microscopy and immunofluorescence staining revealed that the variant induced the aberrant ultrastructure and reduction of CFAP69 expression in the proband's spermatozoa. Moreover, the partner of the proband birthed a healthy girl through ICSI.CONCLUSIONSThis study expanded the variant spectrum of CFAP69 and described the good outcome of ART treatment with ICSI, which is beneficial to the molecular diagnosis, genetic counseling, and treatment of infertile males with MMAF in the future.

01 Jun 2023·Human genetics

ADGB variants cause asthenozoospermia and male infertility.

Article

Author: Zhang, Zhihua ; Chen, Biaobang ; Kuang, Yanping ; Zeng, Yang ; Wang, Lei ; Sang, Qing ; Liu, Ruyi ; Li, Qiaoli ; Sun, Xiaoxi ; Wang, Wenjing ; Zhao, Lin ; Wu, Ling ; Yan, Zheng ; Qu, Ronggui ; Li, Qun ; Dong, Jie ; Mu, Jian

Asthenozoospermia is one of the main factors leading to male infertility, but the genetic mechanisms have not been fully elucidated. Variants in the androglobin (ADGB) gene were identified in an infertile male characterized by asthenozoospermia. The variants disrupted the binding of ADGB to calmodulin. Adgb^-/- male mice were infertile due to reduced sperm concentration (< 1 × 10⁶ /mL) and motility. Spermatogenesis was also abnormal, with malformation of both elongating and elongated spermatids, and there was an approximately twofold increase in apoptotic cells in the cauda epididymis. These exacerbated the decline in sperm motility. It is surprising that ICSI with testicular spermatids allows fertilization and eventually develops into blastocyst. Through mass spectrometry, we identified 42 candidate proteins that are involved in sperm assembly, flagella formation, and sperm motility interacting with ADGB. In particular, CFAP69 and SPEF2 were confirmed to bind to ADGB. Collectively, our study suggests the potential important role of ADGB in human fertility, revealing its relevance to spermatogenesis and infertility. This expands our knowledge of the genetic causes of asthenozoospermia and provides a theoretical basis for using ADGB as an underlying genetic marker for infertile males.

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CFAP69

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