Description
Product Characteristics:
Fe65L is a 758 amino acid protein that contains one WW domain and two PID domains. Binding to the intracellular domain of the -Amyloid precursor protein, Fe65L is thought to modulate the internalization and, therefore, the accessibility and function of -Amyloid. Via its ability to control the intracellular accumulation of -Amyloid, Fe65L is thought to play a role in the pathogenesis of Alzheimer's disease. Multiple isoforms of Fe65L exist due to alternative splicing events. The gene encoding Fe65L maps to human chromosome 4, which encodes nearly 6 % of the human genome and has the largest gene deserts (regions of the genome with no protein encoding genes) of all of the human chromosomes. Defects in some of the genes located on chromosome 4 are associated with Huntington's disease, Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease.
Subcellular location: Nucleus
Synonyms: Amyloid beta A4 precursor protein-binding, family B, member 2 Fe65 like, Amyloid beta A4 precursor protein binding family B member 2, Amyloid beta A4 precursor protein-binding family B member 2, APBB 2, APBB2, APBB2_HUMAN, Fe65 like 1, Fe65 like, Fe65 like protein, FE65L 1, FE65L, FE65L1, Protein Fe65-like 1, Rirl 1, Rirl1, TR2 L, TR2L, Zfra, Zinc finger like protein.
Target Information: The protein encoded by this gene 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. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]