This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
KLHL12-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
KLHL12-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
KLHL12-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
KLHL12-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
KLHL12-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Symbol : KLHL12
Gene Name : Kelch like family member 12
Chromosome : CHR 1: 202,928,643-202,891,095
Locus : 1q32.1
Alt. Genes : SGK2
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