KLHL24 encodes Kelch like 24, a protein known to interact with GluR6, a kainate receptor located at synapses in the central nervous system. KLHL24 reduces endogenous kainate receptor-mediated currents evoked in hippocampal neurons, speculatively by modulating channel properties. It is predicted that by inhibiting peak current mediated by kainate receptors, KLHL24 protects neurons during the high frequency release of glutamate. The protein is also involved in protein ubiquitination and forms a part of the Cul3-RING ubiquitin ligase complex.
The gene is associated with Epidermolysis Bullosa Simplex, Generalized, with Scarring and Hair Loss (EBSSH), an autosomal dominant disorder characterized by skin abnormalities such as denudation, blisters, hypopigmentation, mild atrophy and diffuse palmoplantar keratoderma.