DNAAF6: Dynein Axonemal Assembly Factor 6
Essential for Ciliary Motility and Spermatogenesis
Gene Information Card
| Symbol | DNAAF6 |
|---|---|
| Full Name | Dynein Axonemal Assembly Factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 100132947 ncbi.nlm.nih.gov/gene/100132947 |
| Ensembl ID | ENSG00000185973 |
| UniProt ID | Q5T655 |
| OMIM ID | 300933 |
| HGNC ID | 33820 |
| Aliases | PF22, CCDC63, FLJ32894 |
Description
DNAAF6 (dynein axonemal assembly factor 6) encodes a coiled-coil domain-containing protein involved in the preassembly of dynein arm complexes in cilia and flagella. It is essential for the proper assembly of outer and inner dynein arms, which are required for ciliary motility. Mutations in DNAAF6 cause primary ciliary dyskinesia (PCD) with situs inversus (Kartagener syndrome) and male infertility due to sperm flagellar defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia 36 (PCD36) | Loss-of-function mutations impair dynein arm assembly, leading to immotile cilia | OMIM #300933; ClinVar |
| Kartagener syndrome | Defective ciliary motility causes situs inversus, chronic respiratory infections, and infertility | OMIM #244400; NCBI Gene |
| Male infertility (spermatogenic failure) | Absence of dynein arms in sperm flagella results in asthenozoospermia | OMIM #300933; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 6.8 | Low |
| Fallopian tube | 5.2 | Low |
| Brain | 1.0 | Not detected |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm cells | N/A | High expression in flagella |
| Respiratory epithelial cells | N/A | Expressed in ciliated cells |
| HEK293 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Loss of function; truncated protein |
| c.325_326del (p.Leu109Valfs*2) | Frameshift | Rare | Loss of function; premature stop |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Likely loss of function; disrupts coiled-coil domain |
Mutation functional classification
Loss of Function (LOF)
Most reported DNAAF6 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absent or nonfunctional protein and defective dynein arm assembly.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility (REACT: R-HSA-5620924)
• Dynein arm assembly (REACT: R-HSA-5620916)
Protein Summary
DNAAF6 is a 546-amino acid protein containing coiled-coil domains. It localizes to the cytoplasm and is required for the preassembly of dynein arm complexes before their transport into cilia and flagella. The protein interacts with other dynein assembly factors (e.g., DNAAF1, DNAAF2) to ensure proper formation of outer and inner dynein arms. Loss of DNAAF6 leads to immotile cilia and flagella, causing primary ciliary dyskinesia and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF6 Knockout HEK293 Cell Line | EDJ-KQ9537 | Human | 139212 | Details Get a Quote |
| DNAAF6 Knockout A-549 Cell Line | EDJ-KQ36317 | Human | 139212 | Details Get a Quote |
| DNAAF6 Knockout HCT 116 Cell Line | EDJ-KQ36318 | Human | 139212 | Details Get a Quote |
| DNAAF6 Knockout HeLa Cell Line | EDJ-KQ36319 | Human | 139212 | Details Get a Quote |
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