Aph1B Gene Anterior Pharynx Defective 1 Homolog B is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
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title: APH1B Gene [2]
description: Anterior pharynx defective 1 homolog B - gamma-secretase component [3]
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| APH1B Gene | |
|---|---|
| Symbol | APH1B |
| Full Name | Anterior Pharynx Defective 1 Homolog B |
| Chromosomal Location | 15q21.3 |
| NCBI Gene ID | 83464 |
| OMIM | 607630 |
| Ensembl ID | ENSG00000125691 |
| UniProt ID | Q8WW43 |
| Associated Diseases | [Alzheimer's Disease](/diseases/alzheimers-disease) |
APH1B (Anterior Pharynx Defective 1 Homolog B) is a critical component of the gamma-secretase complex, one of the four core subunits required for the assembly and function of this intramembrane protease. APH1B contributes to the substrate specificity and catalytic activity of gamma-secretase.
APH1B is a multipass transmembrane protein that serves as a structural scaffold within the gamma-secretase complex.
In the brain, APH1B is expressed in:
High expression is observed in the hippocampus (CA1-CA3 regions), entorhinal cortex, and prefrontal cortex - regions vulnerable in Alzheimer's disease.
APH1B plays a significant role in AD pathogenesis through its involvement in gamma-secretase activity:
The study of Aph1B Gene Anterior Pharynx Defective 1 Homolog B has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
The Allen Brain Atlas provides comprehensive gene expression data across brain regions and cell types.
Search for expression data on the Allen Brain Atlas:
He G, et al. (2010). Aph-1b and gamma-secretase activity. He G, et al. 2010. ↩︎
Svedruzic ZM, et al. (2012). Gamma-secretase and Aph-1b. Svedruzic ZM, et al. 2012. ↩︎
Serneels L, et al. (2005). Differential contributions of Aph-1a and Aph-1b. Serneels L, et al. 2005. ↩︎
Talesnik SA, et al. (2019). APH1B in Alzheimer's disease. Talesnik SA, et al. 2019. ↩︎