DISEASES

Disease-gene associations mined from literature

Literature on MKLN1

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM