Anti-MKS1 (BBS13) antibody is validated on mouse tissue and recommended for immunofluorescence labeling, IHC, or western blot of materials from rodent and human tissues.
Meckel syndrome, type 1, also known as MKS1 or BBS13, is encoded by the MKS1 gene in human. The MKS1 protein is localized to the basal body and required for formation of the primary cilium in ciliated epithelial cells.
Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13 (OMIM 249000). Genetic knockout of MKS1 gene in transgenic mouse causes polydactyly, edema, and craniofacial defects, which leads to prenatal lethality.
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