1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
sperm axoneme assemblyflagellated sperm motilitymotile cilium assemblyaxonememethylmalonate semialdehyde dehydrogenase deficiencygenetic disorderatrial fibrillationazoospermia
Based on limited published evidence, BBOF1 (basal body orientation factor 1) plays an essential role in sperm motility and male fertility by stabilizing the sperm flagellar axonemal structure 1. The protein is required for maintaining the integrity of the 9+2 axonemal microtubule arrangement and interacts with axonemal component MNS1 and outer dense fiber protein ODF2 to ensure their stability 1. BBOF1 is exclusively expressed in male germ cells from the pachytene stage onwards. Loss of BBOF1 results in reduced sperm motility due to missing microtubule doublets and male infertility, making it a candidate gene for asthenozoospermia 1. It is dispensable for motile cilia assembly and function.
1
BBOF1 is required for sperm flagellar axoneme stability, interacts with ODF2 and MNS1 proteins, and its loss causes reduced motility and male infertility
PMID: 37198331β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
methylmalonate semialdehyde dehydrogenase deficiencyOpen Targets
genetic disorderOpen Targets
atrial fibrillationOpen Targets
spermatogenic failure, X-linked, 5Open Targets
spermatogenic failure 72Open Targets
spermatogenic failure 18Open Targets
spermatogenic failure 27Open Targets
spermatogenic failure 46Open Targets
spermatogenic failure 84Open Targets
spermatogenic failure 93Open Targets
spermatogenic failure 65Open Targets
spermatogenic failure 19Open Targets
spermatogenic failure 43Open Targets
spermatogenic failure 45Open Targets
spermatogenic failure 49Open Targets
spermatogenic failure 82Open Targets
spermatogenic failure 56Open Targets
spermatogenic failure 92Open Targets
spermatogenic failure 94Open Targets
No pathogenic variants reported on ClinVar for this gene.