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Invitrogen
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Immunogen sequence: SVTPNDQCPR AEVSRREDVK KRSVYLKVLF NNKEVSRTVS RPLGADFRVH FGQIFNLQIV NWPESLTLQV YETVGHSSPT LLAEVFLPIP ETTVVTGRAP TEEVEFSSN
Highest antigen sequence identity to the following orthologs: Mouse - 88%, Rat - 89%.
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Coiled-coil and C2 domain-containing protein 2A
基因别名: CC2D2A; JBTS9; KIAA1345; MKS6
UniProt ID: (Human) Q9P2K1
Entrez Gene ID: (Human) 57545