APBB2
Description
The APBB2 (amyloid beta precursor protein binding family B member 2) is a protein-coding gene located on chromosome 4.
The APBB2 gene encodes a protein that interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction.
APBB2 contributes to the maintenance of lens transparency and may also be involved in muscle cell strength. It participates in hippocampal neurite branching and neuromuscular junction formation, suggesting a role in spatial memory. APBB2 activates transcription of the amyloid precursor protein (APP).
APBB2 is also known as FE65L, FE65L1.
Associated Diseases
- type 2 diabetes mellitus
- type 1 diabetes mellitus
- diabetes mellitus, transient neonatal, 2
- syndactyly type 4
- synpolydactyly type 1
- hyperinsulinism due to glucokinase deficiency
- polydactyly of a triphalangeal thumb
- polydactyly, postaxial, type A1
- symphalangism with multiple anomalies of hands and feet
- brachydactyly type C
- syndactyly type 5
- mesoaxial synostotic syndactyly with phalangeal reduction
- brachydactyly type A2
- syndactyly type 1
- brachydactyly type A7
