Human Meckel syndrome type 1 protein (MKS1) ELISA kit; BBS13; FLJ20345; MES; MKS; FABB proteome-like protein; Meckel syndrome type 1 protein; Meckel syndrome; type 1

For Research Use Only. Not for use in diagnostic procedures.

Store all reagents at 2-8 degree C

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Small volumes of MKS1 elisa kit vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

MBS9334724 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the Meckel syndrome, type 1 (MKS1) ELISA Kit target analytes in biological samples. The concentration gradients of the kit standards or positive controls render a theoretical kit detection range in biological research samples containing MKS1. The ELISA analytical biochemical technique of the MBS9334724 kit is based on MKS1 antibody-MKS1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect MKS1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, MKS1. Appropriate sample types may include undiluted body fluids and/or tissue homogenates, secretions. Quality control assays assessing reproducibility identified the intra-assay CV (%) and inter-assay CV(%).

64,528 Da

Meckel syndrome, type 1

Meckel syndrome type 1 protein; FABB proteome-like protein; POC12 centriolar protein homolog

Meckel syndrome type 1 protein

MKS1_HUMAN

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. [provided by RefSeq, Sep 2009]

MKS1: Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Defects in MKS1 are the cause of Meckel syndrome type 1 (MKS1). MKS1 is an autosomal recessive disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Defects in MKS1 are the cause of Bardet-Biedl syndrome type 13 (BBS13). Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. A relatively high incidence of BBS is found in the mixed Arab populations of Kuwait and in Bedouin tribes throughout the Middle East, most likely due to the high rate of consaguinity in these populations and a founder effect. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 17q22

Cellular Component: centriole; centrosome; membrane; cytoplasm; cytosol

Molecular Function: protein binding

Biological Process: branching morphogenesis of a tube; organelle organization and biogenesis; cilium biogenesis

Disease: Bardet-biedl Syndrome 13; Meckel Syndrome, Type 1

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