2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingmicrotubule bindingmicrotubule cytoskeleton organizationmitotic spindle organizationeye diseasehepatitis B virus infectionandrogenetic alopeciaalopecia
Based on limited published evidence, CFAP100 regulates ciliary and flagellar motility through inner dynein arm assembly and axonemal organization. Beyond its canonical ciliary role, CFAP100 couples microtubule glutamylation to spindle pole integrity in keratinocytes, essential for proper chromosome 3 and epidermal development 1. CFAP100 interacts with microtubules to promote polymerization; its overexpression stabilizes microtubules but can disorganize microtubule networks and disrupt epithelial cell junctions 2. These findings reveal CFAP100's dual roles in ciliary function and mitotic spindle organization.
1
CFAP100 couples microtubule glutamylation to spindle pole integrity in keratinocytes, maintaining proper chromosome segregation and epidermal development
PMID: 405936062
CFAP100 interacts with and promotes microtubule polymerization, with overexpression stabilizing microtubules and disrupting epithelial cell junctions
PMID: 37192300β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
hepatitis B virus infectionOpen Targets
androgenetic alopeciaOpen Targets
chronic obstructive pulmonary diseaseOpen Targets
schizophreniaOpen Targets
breast carcinomaOpen Targets
cervical cancerOpen Targets
Mobius syndromeOpen Targets
Neoplasm of the lungOpen Targets
ovarian cancerOpen Targets
respiratory failureOpen Targets
squamous cell carcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.