DISEASES

Disease-gene associations mined from literature

Literature associating RTN4RL1 and Miller-Dieker lissencephaly syndrome

RTN4RL1 [ENSP00000330631]

Reticulon-4 receptor-like 1; Cell surface receptor. Plays a functionally redundant role in postnatal brain development and in regulating axon regeneration in the adult central nervous system. Contributes to normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated by MAG. Plays a role in inhibiting neurite outgrowth and axon regeneration via its binding to neuronal chondroitin sulfate proteoglycans. Binds heparin (By similarity). Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development . Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton .

Synonyms:  RTN4RL1,  RTN4RL1p,  hRTN4RL1,  Q86UN2,  Q86UN2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM