Literature associating COMMD9 and Ritscher-Schinzel syndrome
COMMD9 [ENSP00000263401]
COMM domain-containing protein 9; May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes . May down-regulate activation of NF- kappa-B . Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride- sensitive sodium channel (ENaC) subunits .
Synonyms: COMMD9, COMMD9p, hCOMMD9, E9PJ95, Q53FR9 ...