MKLN1


Description

The MKLN1 (muskelin 1) is a protein-coding gene located on chromosome 7.

Muskelin is a protein that in humans is encoded by the MKLN1 gene.

MKLN1 has been shown to interact with RANBP9.

MKLN1, also known as Muskelin, is part of the CTLH E3 ubiquitin-protein ligase complex. This complex selectively receives ubiquitin from UBE2H and facilitates the ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MKLN1 is also required for the internalization of the GABA receptor GABRA1 from the cell membrane via endosomes, leading to GABRA1 degradation. Furthermore, MKLN1 acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component THBS1.

MKLN1 is also known as TWA2.

Associated Diseases



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