protein C8orf13 (FAM167A)
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Structure
- belongs to the FAM167 (SEC) family
Expression
- expressed in skin, including primary keratinocytes, spleen, kidney, leukocytes, testis, lung, small intestine & prostate
Pathology
- genetic variation in the upstream region of the BLK gene & C8orf13 gene (chromosome 8p23.1) is associated with systemic lupus erythematosus
Genetics
- apparently linked with BLK gene (chromosome 8p23.1)
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q96KS9.html
- ↑ Hom G, Graham RR, Modrek B et al Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med. 2008 Feb 28;358(9):900-9 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18204098