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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Coiled-coil and C2 domain-containing protein 2A
Gene Aliases: CC2D2A; JBTS9; KIAA1345; MKS6
UniProt ID: (Human) Q9P2K1
Entrez Gene ID: (Human) 57545
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