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Note: suggested antigen retrieval with TE buffer pH 9.0; (*) Alternatively, antigen retrieval may be performed with citrate buffer pH 6.0
Store at -20°C. Stable for one year after shipment. Aliquoting is unnecessary for -20oC storage.
MKS1 (Meckel syndrome type 1 protein) is a 559-amino acid protein that contains a conserved B9 domain. It is a component of a large protein complex which localizes to the ciliary transition zone and regulates mammalian ciliogenesis and ciliary membrane composition (PMID: 21725307). MKS1 is required for ciliary structure and function, and is involved in centrosome migration to the apical cell surface during early ciliogenesis (PMID: 17185389; 19515853). Broad tissue expression of the MKS1 gene has been reported (PMID: 16415886). Defects in MKS1 are the cause of Meckel syndrome type 1 (MKS1), an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia, central nervous system malformations, and hepatic developmental defects (PMID: 16415886). In addition, defects in MKS1 are also the cause of Bardet-Biedl syndrome type 13 (BBS13) (PMID: 18327255).