APPBP2
Description
The APPBP2 (amyloid beta precursor protein binding protein 2) is a protein-coding gene located on chromosome 17.
APPBP2 is a protein encoded by the APPBP2 gene in humans. This protein interacts with microtubules and is involved in the transport and/or processing of the beta-amyloid precursor protein (APP). APP is a cell surface protein with signal-transducing properties and is implicated in the pathogenesis of Alzheimer's disease. Notably, APPBP2 is highly expressed in breast cancer. This gene exhibits multiple polyadenylation sites.
APPBP2 is a substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex involved in the DesCEND pathway. This pathway targets proteins for degradation by recognizing a C-degron motif at their C-terminus. The CRL2(APPBP2) complex specifically targets proteins with a -Arg-Xaa-Xaa-Gly degron at their C-terminus. This complex is known to ubiquitinate and degrade truncated SELENOV selenoproteins produced by failed UGA/Sec decoding, which possess this degron. Additionally, APPBP2 may play a role in intracellular protein transport by facilitating the translocation of APP along microtubules towards the cell surface.
APPBP2 is also known as APP-BP2, HS.84084, PAT1.
Associated Diseases
- uncombable hair syndrome
- Griscelli syndrome type 3
- Waardenburg syndrome type 2A
- hypotrichosis simplex
- Clouston syndrome
- Waardenburg syndrome, IIa 2F
- cancer
