| Protein Name | kelch like family member 12 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 59349 |
| Gene Symbol | KLHL12 |
| UniProt | Q53G59 (KLH12_HUMAN), Q9H7R2 (Q9H7R2_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
9
Total Number of Articles : 9 |
Description |
kelch like family member 12 |
| Gene Summary |
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] |
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