PA5-30758 targets MKS1 in IHC (P) and WB applications and shows reactivity with Human samples.
The PA5-30758 immunogen is recombinant fragment corresponding to a region within amino acids 135 and 357 of Human MKS1.
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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.
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Protein Aliases: BBS13; FABB proteome-like protein; Meckel syndrome type 1 protein; Meckel syndrome type 1 protein homolog; MES; MKS; POC12; POC12 centriolar protein homolog
Gene Aliases: BBS13; MES; MKS; MKS1; POC12
Molecular Function: extracellular matrix protein