Disease-gene associations mined from literature

Literature associating REEP1 and hereditary spastic paraplegia 18

REEP1 [ENSP00000438346]

Receptor expression-enhancing protein 1; Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. May play a role in long-term axonal maintenance; Receptor accessory proteins

Synonyms:  REEP1,  REEP1p,  hREEP1,  E7ESS5,  E7EUF7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM