别 名: centrosomal protein 290; CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag
相关类别: 抗原
| Full name: | centrosomal protein 290 | 
| Synonyms: | CT87; MKS4; POC3; rd16; BBS14; JBTS5; LCA10; NPHP6; SLSN6; 3H11Ag | 
| Swissprot: | O15078 | 
| Gene Accession: | BC008641 | 
| Purity: | >85%, as determined by Coomassie blue stained SDS-PAGE | 
| Expression system: | Escherichia coli | 
| Tags: | His tag C-Terminus, GST tag N-Terminus | 
| Background: | This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. | 
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