DISEASES

Disease-gene associations mined from literature

Literature associating KLHL7 and retinitis pigmentosa 63

KLHL7 [ENSP00000343273]

Kelch-like family member 7; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination; BTB domain containing

Synonyms:  KLHL7,  KLHL7p,  hKLHL7,  B7Z3P9,  B7Z4N7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM