Positive IHC detected in: human liver cancer tissue, human ovary tissue Note: suggested antigen retrieval with TE buffer pH 9.0; (*) Alternatively, antigen retrieval may be performed with citrate buffer pH 6.0
Positive IF detected in: hTERT-RPE1 cells and Mouse embryonic fibroblasts
Recommended dilution: WB : 1:500-1:2000 IP : 0.5-4.0 ug for IP and 1:500-1:2000 for WB IHC : 1:50-1:500 IF : 1:20-1:200 Product Information
Storage: PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Store at -20°C. Stable for one year after shipment. Aliquoting is unnecessary for -20oC storage. Immunogen Information
Full name: Meckel syndrome, type 1
Calculated molecular weight: 559 aa, 65 kDa
Observed molecular weight: 65-70 kDa
Gene symbol MKS1
Synonyms BBS13, Meckel syndrome type 1 protein, Meckel syndrome, type 1, MES, MKS, MKS1 Background 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).
杭州浩克生物
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