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Antibody detects endogenous levels of total CC2D2A.
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: 5730509K17Rik; b2b1035Clo; CC2D2A; JBTS9; KIAA1345; MKS6
UniProt ID: (Human) Q9P2K1, (Mouse) Q8CFW7
Entrez Gene ID: (Human) 57545, (Mouse) 231214