MKS1 Antibody 14 Publications

Rabbit Polyclonal| Catalog number: 16206-1-AP

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Freight/Packing

Con: 36 μg/150 μl

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Species specificity:
human, mouse, rat

Positive WB detected in:
mouse brain tissue, HEK-293 cells, HeLa cells, mouse uterus tissue, SH-SY5Y cells

Positive IP detected in:
HEK-293 cells,

Positive IHC detected in:
human liver cancer tissue, human ovary tissue

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


Source:
Rabbit

Purification method:
Antigen affinity purification

Isotype:
IgG

Storage:
PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Store at -20oC. Aliquoting is unnecessary for -20oC storage.

Immunogen Information


Full name:
Meckel syndrome, type 1

Calculated molecular weight:
559aa,65 kDa

Observed molecular weight:
65-70 kDa

GenBank accession number:

Gene ID (NCBI):

Gene symbol
MKS1

Synonyms
BBS13, FLJ20345, 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).


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