Kelch-like protein 7 (KLHL7)

Kelch-like protein 7 is a BTB-Kelch-related protein encoded by the KLHL7 gene in humans. It functions as a substrate-specific adaptor for a BTB-CUL3-RBX1 E3 ubiquitin ligase complex, mediating the ubiquitination and degradation of specific substrate proteins. KLHL7 contains BTB/POZ, BACK, and Kelch domains, which allow protein-protein interactions and confer substrate specificity for ubiquitination machinery. Mutations in KLHL7 are associated with autosomal dominant retinitis pigmentosa (type 42) and other inherited retinal diseases. KLHL family members, including KLHL7, play diverse roles in protein quality control, cell morphology, and gene expression, and are involved in human disease, particularly neurodegenerative and Mendelian disorders.

Other names

KLHL7Kelch Like Family Member 7

Mediates ubiquitination and subsequent degradation of substrate proteins through the BTB-CUL3-RBX1 E3 ligase complex