APH1A
Description
The APH1A gene encodes a protein that is a crucial component of the gamma-secretase complex. This complex is involved in the processing of various transmembrane proteins, including amyloid precursor protein (APP), which is linked to Alzheimer‘s disease. The APH1A protein interacts with other components of the complex, namely presenilin (PSEN1 or PSEN2) and nicastrin (NCSTN), to form a functional unit responsible for the intramembrane cleavage of target proteins. Mutations in the APH1A gene can disrupt the function of the gamma-secretase complex, leading to alterations in the processing of APP and potentially contributing to the development of certain diseases.
Associated Diseases
- Alzheimer‘s disease
- Familial Alzheimer‘s disease (FAD)
- Cerebral amyloid angiopathy
- Spinal muscular atrophy
Did you know?
The APH1A gene is one of two genes encoding the APH1 protein, the other being APH1B. Both genes contribute to the formation of the gamma-secretase complex, but they exhibit different expression patterns and may have distinct roles in specific cell types.
