DISEASES

Disease-gene associations mined from literature

Literature associating NEDD4L and dyslexia

NEDD4L [ENSP00000383199]

Neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, Nav1.2, Nav1.3, Nav1.5, Nav1.7, Nav1.8, Kv1.3, KCNH2, EAAT1 or CLC5. Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1. Plays a role in dendrite formation by melanocytes. Involved in the regulation of TOR signaling; C2 domain containing

Synonyms:  NEDD4L,  NEDD4Lp,  hNEDD4L,  A0A024R281,  A0A024R2A4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM