Aliases for KLHL24 Gene
External Ids for KLHL24 Gene
Previous GeneCards Identifiers for KLHL24 Gene
The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]
GeneCards Summary for KLHL24 Gene
KLHL24 (Kelch Like Family Member 24) is a Protein Coding gene. Diseases associated with KLHL24 include Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss and Epidermolysis Bullosa Simplex, Koebner Type. An important paralog of this gene is KLHL35.
UniProtKB/Swiss-Prot for KLHL24 Gene
Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity (PubMed:27889062). As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation (PubMed:27798626). Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity).