Unlock Exclusive Discounts & Flash Sales! Click Here to Join the Deals on Every Wednesday!
Official Full Name: kelch like family member 12
Also known as: DKIR; C3IP1
This gene encodes a member of the KLHL (kelch-like) protein family. This protein has been identified as an autoantigen for the autoimmune disease Sjogren's syndrome and as a potential biomarker for primary biliary cirrhosis. This protein may serve as a substrate linker for the Cullin-3 ubiquitin ligase complex, promoting substrate-specific ubiquitination. Ubiquitination of this complex has been shown to regulate Wnt signaling as well as COPII vesicle coat size. A pseudogene was found on chromosome 22. Alternative splicing results in multiple transcript variants.