DNAAF8 Gene: Dynein Axonemal Assembly Factor 8
Essential for ciliary motility and implicated in primary ciliary dyskinesia
Gene Information Card
| Symbol | DNAAF8 |
|---|---|
| Full Name | dynein axonemal assembly factor 8 |
| Gene Type | protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 729440 ncbi.nlm.nih.gov/gene/729440 |
| Ensembl ID | ENSG00000188986 |
| UniProt ID | Q5T1J5 |
| OMIM ID | 619191 |
| HGNC ID | 33825 |
| Aliases | CCDC144A, C16orf71 |
Description
DNAAF8 encodes a protein involved in the assembly of axonemal dynein complexes, which are essential for ciliary motility. It is part of the dynein axonemal assembly factor family and is required for proper function of motile cilia. Mutations in this gene lead to primary ciliary dyskinesia, a disorder characterized by chronic respiratory infections, situs inversus, and infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss-of-function mutations impair dynein arm assembly, leading to immotile cilia | ClinVar, OMIM |
| Ciliary dyskinesia with situs inversus | Defective ciliary motility disrupts left-right body patterning during embryogenesis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 20.1 | Medium |
| Lung | 12.3 | Low |
| Brain | 5.2 | Low |
| Heart | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in renal epithelial cells |
| A549 | 8.5 | Lung carcinoma cell line |
| HeLa | 6.2 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Ter) | Nonsense | Rare | Premature stop codon, loss of function |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Disrupts protein folding, loss of function |
| c.1567del (p.Leu523fs) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to defective dynein arm assembly and ciliary immotility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility
• Axonemal dynein assembly
Protein Summary
DNAAF8 is a cytoplasmic protein that participates in the pre-assembly of dynein arm complexes before their transport into the ciliary axoneme. It contains coiled-coil domains and is essential for the stability of dynein intermediate chains. Defects in this protein result in absent or malformed dynein arms, causing primary ciliary dyskinesia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAAF8 Knockout HEK293 Cell Line | EDJ-KQ13170 | Human | 146562 | Details Get a Quote |
| DNAAF8 Knockout A-549 Cell Line | EDJ-KQ42516 | Human | 146562 | Details Get a Quote |
| DNAAF8 Knockout HCT 116 Cell Line | EDJ-KQ42517 | Human | 146562 | Details Get a Quote |
| DNAAF8 Knockout HeLa Cell Line | EDJ-KQ42518 | Human | 146562 | Details Get a Quote |
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