Mutations in the AP3B1 gene have a wide range of effects on organelles such as mitochondria. The study of AP3B1 function can further elucidate its pathogenic mechanism. Creative Biolabs has been focusing on the analysis of high-quality in vitro diagnostic (IVD) biomarker and can provide one-stop AP3B1 analysis services to support your research.
AP3 and AP3B1 Structure
The AP3B1 gene encodes the β3A subunit of the AP3. AP3 is an adaptor protein complex that is responsible for screening, packaging, and transporting specific proteins synthesized by the Golgi apparatus in intermediates to various lysosomal associated organelles. The AP3 protein complex is a stable heterotetramer composed of four subunits, each subunit encoded by different genes.
AP3B1 in HPS2
Hermansky-Pudlak syndrome type2 (HPS2) is a rare autosomal recessive disorder characterized by platelet defects, cutaneous albinism, and pulmonary fibrosis, caused by mutations in the AP3B1 gene. The HPS2 patients often suffer from severe complications such as pulmonary fibrosis, bleeding, and colitis and so forth.
Fig.1 Illustration the mechanism of AP3B1 mutation or deficiency in HPS2.1
In studies of HPS2, AP3B1 mutation or deficiency of expression has been shown to alter a variety of homeostasis processes in the granules of alveolar epithelial cells, including TCA cycling and proteotoxic stress response, etc.
AP3B1 in Other Disease
The cause of uterine dysplasia caused by AP3B1 gene mutation is the deletion of AP3 protein complex affects the membranous localization of PCP-2 and β-catenin, and thus leads to the abnormality of Wnt and Hox, which are important regulatory pathways in uterine development.
AP3B1 plays a key role in HIV particle assembly, cell release, and HIV replication.
The AP3B1 gene is associated with familial hemophilic lymphohistiocytic hyperplasia in Multisystem Inflammatory disease in Children (MIS-C).
Services Provided by Creative Biolabs
Molecular genetic detection of AP3B1 gene mutation can be used to confirm HPS2. And the mechanism role in other diseases is also a hot research direction. Our services can be customized to suit the specific needs of our clients, popular analysis services targeting AP3B1 include but not limited to the following:
| Cat | Service |
|---|---|
| BAS112-1 | AP3B1 Antibody Development |
| BAS112-2 | AP3B1 Protein Quantification Analysis |
| BAS112-3 | AP3B1 Protein Qualitative Analysis |
| BAS112-4 | AP3B1 Function Analysis |
| BAS112-5 | Custom AP3B1 Assay |
| Cat | Service |
|---|---|
| BAS112-6 | AP3B1 PCR Assay |
| BAS112-7 | AP3B1 Sequence Assay |
| BAS112-8 | AP3B1 RNA Isolation |
| BAS112-9 | AP3B1 Methylation Analysis |
We are committed to providing the highest quality of custom services and products at the most reasonable prices. Please feel free to contact us for more information and a formal quote.
Reference
- Cuevas-Mora, Karina, et al. "Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung." Respiratory research 22 (2021): 1-11. Distributed under CC BY-SA 4.0, without modification.
For Research Use Only.
