Disease-gene associations mined from literature

Literature associating FUS and progressive bulbar palsy

FUS [ENSP00000254108]

RNA-binding protein FUS; DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response . Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing . Binds also its own pre- mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay . Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair . In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:24204307,

Synonyms:  FUS,  H3BNZ4,  H3BPE7,  P35637,  Q6IBQ5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM