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Gene : KLHL12 Homo sapiens

Name  ? kelch like family member 12 Cytological Location  1q32.1
Brief Description  kelch like family member 12
description  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]
  • synonyms:
  • C3IP1,
  • HGNC:19360,
  • DKIR,
  • KLHL12,
  • NM_021633,
  • kelch-like 12 (Drosophila),
  • uc001gyo.2,
  • OTTHUMG00000041385,
  • C3IP1,
  • AF190900
  • identifiers:
  • 59349,
  • ENSG00000117153,
  • KLHL12

Genome feature

Region: gene ? Length: 37549  
Location: 1:202891096-202928644 reverse strand Cyto location: 1q32.1


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Disease

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0 Pathways

680 SN Ps

5 Cross References

13 Data Sets

37 Homologues

0 Located Features

90 Rna Seq Results