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Product Details
PA5-99976
| Applications | Tested Dilution | Publications |
|---|---|---|
Western Blot (WB) |
1:500-1:2,000 | - |
Immunohistochemistry (Paraffin) (IHC (P)) |
1:50-1:200 | - |
| Product Specifications | |
|---|---|
Species Reactivity |
Human, Mouse, Non-human primate, Rat |
Host/Isotype |
Rabbit / IgG |
Class |
Polyclonal |
Type |
Antibody |
Immunogen |
A synthesized peptide derived from human MKS1, corresponding to a region within C-terminal amino acids. |
Conjugate |
Unconjugated |
Form |
Liquid |
Concentration |
1 mg/mL |
Purification |
Affinity chromatography |
Storage buffer |
PBS, pH 7.4, with 50% glycerol |
Contains |
0.02% sodium azide |
Storage conditions |
-20°C |
RRID |
AB_2818909 |
Target Information
The protein encoded by this gene localizes to the basal body and is 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. Multiple transcript variants encoding different isoforms have been found for this gene.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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Bioinformatics
Protein Aliases: Meckel syndrome type 1 protein; Meckel syndrome type 1 protein homolog; POC12 centriolar protein homolog; Tectonic-like complex member MKS1
Gene Aliases: AK190930; B8d3; BBS13; MES; MKS; MKS1; POC12
UniProt ID: (Human) Q9NXB0, (Mouse) Q5SW45, (Rat) Q499Q5
Entrez Gene ID: (Human) 54903, (Mouse) 380718, (Rat) 287612
Molecular Function:
structural protein
neural tube closure
determination of left/right symmetry
epithelial structure maintenance
nonmotile primary cilium assembly
cilium assembly
embryonic digit morphogenesis
embryonic skeletal system development
branching morphogenesis of an epithelial tube
inner ear receptor stereocilium organization
cilium morphogenesis
head development
regulation of canonical Wnt signaling pathway
common bile duct development
regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
motile primary cilium assembly
embryonic brain development
regulation of Wnt signaling pathway, planar cell polarity pathway
regulation of smoothened signaling pathway
cell projection organization
motile cilium assembly
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