APH1B
Description
The APH1B gene provides instructions for making a protein called APH1B. This protein is a component of the γ-secretase complex, a multi-protein enzyme responsible for cleaving transmembrane proteins, playing a critical role in various cellular processes. APH1B is involved in protein trafficking, a process by which proteins are transported to their designated locations within and outside the cell. This complex mechanism is essential for proper cellular function and communication. Mutations in the APH1B gene can disrupt the γ-secretase complex‘s activity, leading to the accumulation of misfolded proteins and various health issues.
Associated Diseases
- Alzheimer‘s disease
- Familial Alzheimer‘s disease
- Joubert syndrome
- Spinal muscular atrophy type 1
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Did you know?
The γ-secretase complex, which APH1B is a part of, is involved in the production of amyloid-beta (Aβ) protein, a key player in the development of Alzheimer‘s disease. This makes APH1B a potential target for developing new therapies for this debilitating disease.
