Anti-A2BP1/Fox1/RBFOX1 antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

The A2BP1 protein also known as Fox1 or RBFOX1 is a splicing factor that serves an important role in alternative RNA splicing. The protein has a mass of approximately 43 kDa and prominently expresses in the brain muscle and heart. A2BP1/Fox1 is recognized for its RNA-binding capabilities specifically targeting the (U)GCAUG sequence which facilitates the regulation of exon inclusion or skipping during mRNA processing.

Biological function summary

A2BP1/Fox1 influences neuronal and muscle development by managing the splicing of important pre-mRNAs. It operates as part of a larger splicing complex collaborating with other RNA-binding proteins to ensure the proper expression of gene transcripts. This control is vital for neuron-specific and muscle-specific exon recognition affecting the functional states of cells in these tissues.

Pathways

A2BP1/Fox1 activity is integral to the nervous system and muscle development pathways. In the nervous system it links closely with proteins like CELF and PTBP1 modulating the splicing of transcripts involved in synaptic functions. Similarly in muscle development A2BP1/Fox1 works with splicing factors within the pathways that direct muscle differentiation and function such as those involving the protein myogenin.

Associated diseases and disorders

A2BP1/Fox1 has connections to neurological conditions like autism spectrum disorders (ASD) and epilepsy. Altered expression or mutations in the RBFOX1 gene have associations with these conditions impacting neural connectivity and function. In epilepsy A2BP1/Fox1 appears linked with synaptic proteins which when improperly spliced can disrupt normal neuronal signaling contributing to the disorder's pathogenesis.