CFAP44

Chr 3AR

cilia and flagella associated protein 44

Also known as: SPGF20, WDR52

NCBI Gene: 55779ENSG00000206530UniProt: Q96MT7OMIM: 617559

This protein is involved in sperm flagellum axoneme organization and function, enabling peptidase activity required for proper sperm motility. Mutations cause spermatogenic failure 20, inherited in an autosomal recessive pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.561), and while primarily associated with male fertility issues, variants may be identified in pediatric patients during genetic evaluations.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.561 OMIM phenotype
Clinical Summary— CFAP44
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
3 unique Pathogenic / Likely Pathogenic· 54 VUS of 100 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.56LOEUF
pLI 0.000
Z-score 5.12
OE 0.43 (0.34–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.37Z-score
OE missense 0.87 (0.82–0.93)
801 obs / 917.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.43 (0.34–0.56)
0≤0.351.4
Missense OE0.87 (0.82–0.93)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 41 / 94.8Missense obs/exp: 801 / 917.6Syn Z: 1.41

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic3
VUS54
Likely Benign6
3
Likely Pathogenic
54
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
3
0
0
0
3
VUS
0
54
0
0
54
Likely Benign
0
4
0
2
6
Benign
0
0
0
0
0
Total3580263

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CFAP44 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF).
Sha YW et al.·Reprod Sci
2019
Further Insights on RNA Expression and Sperm Motility.
Silva C et al.·Genes (Basel)
2022
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
Tang S et al.·Am J Hum Genet
2017
Patients with multiple morphological abnormalities of the sperm flagella harbouring CFAP44 or CFAP43 mutations have a good pregnancy outcome following intracytoplasmic sperm injection.
Sha YW et al.·Andrologia
2019Cohort
A novel gene, cilia flagella associated protein 44, encoding an enzyme cleaving FtsZ and tubulin contributes to the regulation of secretory pathway.
Tanaka AS et al.·Biochem Biophys Res Commun
2017
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients