DISEASES

Disease-gene associations mined from literature

Literature associating MPP5 and amyotrophic lateral sclerosis type 6

MPP5 [ENSP00000261681]

Membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5); May play a role in tight junctions biogenesis and in the establishment of cell polarity in epithelial cells. May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter. Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity); Belongs to the MAGUK family.

Synonyms:  MPP5,  MPP5p,  hMPP5,  G3V2B0,  G3V2H1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM