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protein C8orf13 (FAM167A)
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)
Properties
GENERAL: uncharacterized protein
SIZE: entity length = 214 aa
MW = 24 kD
FORM: protein C8orf13
MOTIF: coiled coil {118-156}
Database Correlations
OMIM 610085
UniProt Q96KS9
Pfam PF11652
Entrez Gene 83648
Kegg hsa:83648
References
- UniProt :accession Q96KS9
- 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: 18204098