KLHL24
Description
The KLHL24 (kelch like family member 24) is a protein-coding gene located on chromosome 3.
KLHL24 plays a critical role in maintaining a balance between the stability and degradation of intermediate filaments, a process essential for skin integrity. As part of the BCR(KLHL24) E3 ubiquitin ligase complex, KLHL24 mediates the ubiquitination of keratin 14 (KRT14) and regulates its levels during keratinocyte differentiation. KLHL24 also specifically reduces kainate receptor-mediated currents in hippocampal neurons, likely by modulating channel properties. Additionally, KLHL24 has a crucial role in cardiac development and function.
KLHL24 is also known as CMH29, DRE1, EBS6, EBSSH, KRIP6.
Associated Diseases
- Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies
- Epidermolysis bullosa simplex, generalized, with scarring and hair loss
