DISEASES

Disease-gene associations mined from literature

Literature associating KLHL24 and frontometaphyseal dysplasia 1

KLHL24 [ENSP00000395012]

Kelch-like protein 24; 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).

Synonyms:  KLHL24,  KLHL24p,  hKLHL24,  C9J0A6,  C9J2N4 ...

Linkouts:  STRING  Pharos  UniProt