Literature associating MKLN1 and lissencephaly 1
MKLN1 [ENSP00000323527]
Muskelin; Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 . Required for internalization of the GABA receptor GABRA1 from the cell membrane via endosomes and subsequent GABRA1 degradation (By similarity). Acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1 .
Synonyms: MKLN1, MKLN1p, hMKLN1, C9J7E8, C9JVL5 ...