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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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CFAP43
cilia and flagella associated protein 43
Chromosome 10 Β· 10q25.1
NCBI Gene: 80217Ensembl: ENSG00000197748.14HGNC: HGNC:26684UniProt: Q8NDM7
22PubMed Papers
22Diseases
0Drugs
23Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm axoneme assemblyaxonemeregulation of cilium beat frequency9+2 motile ciliumspermatogenic failure 19normal pressure hydrocephalusnon-syndromic male infertility due to sperm motility disorderReduced sperm motility
✦AI Summary

CFAP43 is a ciliary and flagellar protein essential for axoneme organization and motile cilia function. The protein localizes to the ciliary axoneme, specifically positioned between doublet microtubules 5 and 6 and the paraflagellar rod 1. CFAP43 regulates the beating frequency of motile cilia in respiratory tract epithelial cells and is crucial for sperm flagellum assembly and function 2. The protein mediates intra-manchette transport during spermatogenesis, which is required for proper sperm head shaping and flagella formation 3. CFAP43 acts as a target gene of the transcription factor FOXJ1, which induces motile ciliogenesis 2. Biallelic mutations in CFAP43 cause multiple morphological abnormalities of sperm flagella (MMAF), leading to male infertility with severe disorganization of sperm axonemes 14. Additionally, CFAP43 mutations are associated with idiopathic normal pressure hydrocephalus, indicating its role in cerebrospinal fluid homeostasis through cilia dysfunction 5. Mouse models confirm that CFAP43 deficiency results in male infertility, early onset hydrocephalus, and severe mucus accumulation in nasal cavities due to impaired mucociliary clearance 2. Despite the severity of flagellar defects, patients with CFAP43 mutations can achieve successful pregnancies through intracytoplasmic sperm injection 6.

Sources cited
1
CFAP43 localizes between doublet microtubules 5 and 6 and causes male infertility with severe axoneme disorganization when mutated
PMID: 29449551
2
CFAP43 regulates ciliary beating frequency, is a FOXJ1 target gene, and causes hydrocephalus and mucus accumulation when deficient
PMID: 31884020
3
CFAP43 mediates intra-manchette transport required for sperm head shaping and flagella formation
PMID: 33046149
4
Biallelic CFAP43 mutations cause multiple morphological abnormalities of sperm flagella
PMID: 29277146
5
CFAP43 mutations are associated with idiopathic normal pressure hydrocephalus through cilia dysfunction
PMID: 33555136
6
Patients with CFAP43 mutations can achieve successful pregnancies through intracytoplasmic sperm injection
PMID: 36960497
Disease Associationsβ“˜22
spermatogenic failure 19Open Targets
0.74Strong
normal pressure hydrocephalusOpen Targets
0.53Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
Reduced sperm motilityOpen Targets
0.27Weak
Abnormal sperm morphologyOpen Targets
0.27Weak
oligospermiaOpen Targets
0.27Weak
azoospermiaOpen Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
spermatogenic failure 72Open Targets
0.10Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.10Suggestive
spermatogenic failure 65Open Targets
0.10Suggestive
spermatogenic failure 18Open Targets
0.10Suggestive
spermatogenic failure 27Open Targets
0.10Suggestive
spermatogenic failure 46Open Targets
0.10Suggestive
spermatogenic failure 43Open Targets
0.10Suggestive
spermatogenic failure 45Open Targets
0.10Suggestive
spermatogenic failure 49Open Targets
0.10Suggestive
spermatogenic failure 82Open Targets
0.10Suggestive
spermatogenic failure 84Open Targets
0.10Suggestive
Hydrocephalus, normal pressure, 1UniProt
Spermatogenic failure 19UniProt
Pathogenic Variants23
NM_025145.7(CFAP43):c.2706_2707del (p.Val904fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 904
NM_025145.7(CFAP43):c.2680C>T (p.Arg894Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 894
NM_025145.7(CFAP43):c.2758G>T (p.Glu920Ter)Likely pathogenic
Spermatogenic failure 19
β˜…β˜†β˜†β˜†2024β†’ Residue 920
NM_025145.7(CFAP43):c.4579dup (p.Ser1527fs)Likely pathogenic
Normal pressure hydrocephalus;Spermatogenic failure 19
β˜…β˜†β˜†β˜†2023β†’ Residue 1527
NM_025145.7(CFAP43):c.3831T>G (p.Tyr1277Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1277
NM_025145.7(CFAP43):c.3749del (p.Thr1250fs)Likely pathogenic
Normal pressure hydrocephalus;Spermatogenic failure 19
β˜…β˜†β˜†β˜†2022β†’ Residue 1250
NM_025145.7(CFAP43):c.2658G>A (p.Trp886Ter)Pathogenic
Normal pressure hydrocephalus
β˜…β˜†β˜†β˜†2022β†’ Residue 886
NM_025145.7(CFAP43):c.3937C>T (p.Arg1313Ter)Likely pathogenic
Normal pressure hydrocephalus
β˜…β˜†β˜†β˜†β†’ Residue 1313
NM_025145.7(CFAP43):c.3101A>C (p.Lys1034Thr)Likely pathogenic
Oligospermia;Reduced sperm motility;Abnormal sperm morphology
β˜…β˜†β˜†β˜†β†’ Residue 1034
NM_025145.7(CFAP43):c.3145C>T (p.Arg1049Ter)Likely pathogenic
Spermatogenic failure 19
β˜…β˜†β˜†β˜†β†’ Residue 1049
NM_025145.7(CFAP43):c.3716del (p.Ser1239fs)Likely pathogenic
CFAP43-related disorder
β˜†β˜†β˜†β˜†2023β†’ Residue 1239
NM_025145.7(CFAP43):c.3541-2A>CPathogenic
Spermatogenic failure 19
β˜†β˜†β˜†β˜†2021
NM_025145.7(CFAP43):c.4506G>A (p.Trp1502Ter)Pathogenic
Normal pressure hydrocephalus
β˜†β˜†β˜†β˜†2020β†’ Residue 1502
NM_025145.7(CFAP43):c.3661-2delPathogenic
Spermatogenic failure 19
β˜†β˜†β˜†β˜†2019
NM_025145.7(CFAP43):c.3352C>T (p.Arg1118Ter)Pathogenic
Spermatogenic failure 19
β˜†β˜†β˜†β˜†2018β†’ Residue 1118
NM_025145.7(CFAP43):c.1240_1241del (p.Val414fs)Pathogenic
Spermatogenic failure 19
β˜†β˜†β˜†β˜†2018β†’ Residue 414
NM_025145.7(CFAP43):c.1302dup (p.Leu435fs)Pathogenic
Spermatogenic failure 19
β˜†β˜†β˜†β˜†2018β†’ Residue 435
NM_025145.7(CFAP43):c.1040T>C (p.Val347Ala)Pathogenic
Spermatogenic failure 19
β˜†β˜†β˜†β˜†2018β†’ Residue 347
NM_025145.7(CFAP43):c.253C>T (p.Arg85Trp)Pathogenic
Spermatogenic failure 19
β˜†β˜†β˜†β˜†2017β†’ Residue 85
NM_025145.7(CFAP43):c.3945-263_4431+252delPathogenic
Spermatogenic failure 19
β˜†β˜†β˜†β˜†2017
View on ClinVar β†—
Related Genes
DNAH1Protein interaction79%QRICH2Protein interaction79%CFAP70Protein interaction79%CFAP91Protein interaction77%CYB5D1Shared pathway75%TTC21AProtein interaction74%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
68%
Brain
55%
Lung
37%
Liver
17%
Heart
6%
Gene Interaction Network
Click a node to explore
CFAP43DNAH1QRICH2CFAP70CFAP91CYB5D1TTC21A
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.78LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.67 [0.58–0.78]
RankingsWhere CFAP43 stands among ~20K protein-coding genes
  • #13,618of 20,598
    Most Researched22
  • #2,078of 5,498
    Most Pathogenic Variants23
  • #6,389of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedCFAP43
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet Β· 2024
1.00
2
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
PMID: 29449551
Nat Commun Β· 2018
0.90
3
iNPH-the mystery resolving.
PMID: 33555136
EMBO Mol Med Β· 2021
0.80
4
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).
PMID: 29277146
Reprod Sci Β· 2019
0.70
5
CFAP43 modulates ciliary beating in mouse and Xenopus.
PMID: 31884020
Dev Biol Β· 2020
0.60