Kelch-like protein 24

Definition:

Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity. As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation. Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity).

References:

[1]. Yinghong He, et al. Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. [Content Brief]

[2]. Zhimiao Lin, et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet. 2016 Dec;48(12):1508-1516. [Content Brief]

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