Anti-MKS6 (CC2D2A) antibody is validated on mouse tissue and can be used for immunofluorescence labeling, IHC, or western blot of materials from rodent and human tissues.
Meckel syndrome, type 6, also known as MKS6, or Coiled-coil and C2 domain containing 2A (CC2D2A) is encoded by the CC2D2A gene in human. The CC2D2A protein is localized to the basal body and required for the formation of the primary cilium.
Mutations in the CC2D2A gene cause Meckel syndrome type 6, featured by polydactyly of the hands and feet, clubfeet, fibrotic or cystic changes in the liver, and hypoplastic lungs (OMIM 612284).
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