Aliases for KLHL7 Gene
External Ids for KLHL7 Gene
Previous GeneCards Identifiers for KLHL7 Gene
This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
GeneCards Summary for KLHL7 Gene
KLHL7 (Kelch Like Family Member 7) is a Protein Coding gene. Diseases associated with KLHL7 include Retinitis Pigmentosa 42 and Cold-Induced Sweating Syndrome 3. GO annotations related to this gene include protein homodimerization activity and identical protein binding. An important paralog of this gene is IPP.
UniProtKB/Swiss-Prot for KLHL7 Gene
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.