CFAP44: Cilia- and Flagella-Associated Protein 44
Key regulator of ciliary motility and spermatogenesis
Gene Information Card
| Symbol | CFAP44 |
|---|---|
| Full Name | Cilia- and Flagella-Associated Protein 44 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 55779 ncbi.nlm.nih.gov/gene/55779 |
| Ensembl ID | ENSG00000163636 |
| UniProt ID | Q96MT7 |
| OMIM ID | 617094 |
| HGNC ID | 26267 |
| Aliases | CCDC44, FLJ20321, WDR65 |
Description
CFAP44 encodes a protein localized to the ciliary axoneme, essential for motile cilia function and flagellar assembly. It is highly expressed in tissues with motile cilia, including respiratory epithelium and sperm flagella. Mutations in CFAP44 cause primary ciliary dyskinesia (PCD) and male infertility due to defective sperm motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss of CFAP44 disrupts axonemal dynein arm assembly, impairing mucociliary clearance. | ClinVar, OMIM |
| Male Infertility (sperm motility defects) | CFAP44 deficiency leads to flagellar abnormalities and asthenozoospermia. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lung | 12.3 | Medium |
| Trachea | 15.1 | Medium |
| Fallopian Tube | 10.8 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 18.7 | Ciliated epithelial cell line |
| BEAS-2B | 14.2 | Bronchial epithelial cells |
| HeLa | 3.5 | Non-ciliated cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Frameshift, loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <0.01% | Likely damaging, reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of CFAP44 function, leading to PCD and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cilium assembly (GO:0060271) | • motile cilium (GO:0031514) |
| • axoneme (GO:0005930) | • sperm flagellum (GO:0036126) |
| • protein binding (GO:0005515) |
Pathways
• Ciliary motility
• Spermatogenesis
Protein Summary
CFAP44 is a 789-amino acid protein containing WD40 repeats, involved in ciliary and flagellar axoneme structure. It interacts with dynein arms and is critical for microtubule-based movement. Loss of CFAP44 results in immotile cilia and sperm flagella.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CFAP44 Knockout HEK293 Cell Line | EDJ-KQ12876 | Human | 55779 | Details Get a Quote |
| CFAP44 Knockout A-549 Cell Line | EDJ-KQ42058 | Human | 55779 | Details Get a Quote |
| CFAP44 Knockout HCT 116 Cell Line | EDJ-KQ42059 | Human | 55779 | Details Get a Quote |
| CFAP44 Knockout HeLa Cell Line | EDJ-KQ42060 | Human | 55779 | Details Get a Quote |
