The DNAAF3 Polyclonal Antibody (PAC04692) is a valuable tool for researchers studying DNAAF3, a key protein involved in ciliary function and motility. This antibody, produced in rabbits, exhibits high reactivity with human samples and has been validated for use in Western blot applications. By targeting the DNAAF3 protein, researchers can effectively detect and analyze its expression in a variety of cell types, making it an essential component for studies in cell biology and respiratory diseases.
DNAAF3 is essential for the assembly and function of dynein axonemal complexes in cilia, crucial for cellular motility and signaling processes. Dysregulation of DNAAF3 has been linked to various ciliopathies and respiratory conditions such as primary ciliary dyskinesia. Understanding the role of DNAAF3 in ciliary function is vital for uncovering potential therapeutic targets for these diseases and advancing our knowledge of cellular motility mechanisms.
Immunohistochemistry of paraffin-embedded human appendix tissue using PACO46962 at dilution of 1:100.
Immunofluorescent analysis of HepG2 cells using PACO46962 at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L).
Background:
Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.
DNAAF3: Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia. Defects in DNAAF3 are the cause of primary ciliary dyskinesia type 2 (CILD2). CILD is an autosomal recessive disorder characterized by axonemal abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Belongs to the DNAAF3 family. 4 isoforms of the human protein are produced by alternative splicing.Chromosomal Location of Human Ortholog: 19q13.4Disease: Ciliary Dyskinesia, Primary, 2
UniProt Protein Details:
NCBI Summary:
The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
