Aph1a, aph1 homolog A, gamma secretase subunit

Aph1a, aph1 homolog A, gamma secretase subunit

• This gene encodes a subunit of the gamma-secretase complex, which is localized to the endoplasmic reticulum and golgi apparatus. Gamma-secretase is a multi-protein enzyme that catalyzes intramembraneous proteolysis of type I transmembrane proteins and is essential for many signaling pathways, including the Notch signaling pathway. Studies suggest that the protein encoded by this locus binds directly to substrates of the gamma-secretase complex, including the beta-amyloid precursor protein which is associated with Alzheimer disease progression. This gene is required for normal embryonic development and survival, and disruption is associated with defects in the yolk sack angiogenesis, neural tube formation, and somitogenesis. A pseudogene of this gene is located on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

• (No alternate names found)
• NCBI Gene ID: 226548
• Species: Mus musculus (Mouse)
• UNIPROT ID#>>Q6GTF1
  UNIPROT ID#>>Q8BVF7
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

aph1 homolog A, gamma secretase subunit interacts with:

• ATPase, Na+/K+ transporting, alpha 3 polypeptide

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