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Positive test controls include: MCF7, BT-474, A-549, SW480, Mouse testis, Mouse ovary, Mouse small intestine, Rat brain, Rat liver. The target is usually found in the following locations: Cytoplasm, centrosome, cilium basal body, cytoskeleton, microtubule organizing center.
Immunogen sequence: EVPSFLVERM ANVRRRRQDR RGMEGGILKS RIVTWEPSEE FVRNNHVINT PLQTMHIMAD LGPYKKLGYK KYEHVLCTLK VDSNGVITVK PDFTGLKGPY RIETEGEKQE LWKYTIDNVS PHAQPEEEER ERRVFKDLYG RHKEYLSSLV G
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.
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
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