Disease-gene associations mined from literature

Literature associating PRR7 and autosomal dominant Robinow syndrome 3

PRR7 [ENSP00000327168]

Synaptic proline-rich membrane protein; Acts as a synapse-to-nucleus messenger to promote NMDA receptor-mediated excitotoxicity in neurons in a JUN-dependent manner (By similarity). Inhibits ubiquitination-mediated degradation and promotes phosphorylation and transcriptional activity of transcription factor JUN. Might play a redundant role in the regulation of T cell receptor signaling. Might promote apoptosis in T cells.

Synonyms:  PRR7,  PRR7p,  hPRR7,  A0A024R7R8,  D6RFJ4 ...

Linkouts:  STRING  Pharos  UniProt