Human Ribosomal RNA small subunit methyltransferase NEP1 (EMG1) ELISA kit; BWCNS; C2F; FLJ60792; Grcc2f; NEP1; ribosome biogenesis protein NEP1; EMG1 nucleolar protein homolog (S. cerevisiae)

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 EMG1 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.

MBS9334427 is a ready-to-use microwell, strip plate ELISA (enzyme-linked immunosorbent assay) Kit for analyzing the presence of the EMG1 nucleolar protein homolog (S. cerevisiae) 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 EMG1. The ELISA analytical biochemical technique of the MBS9334427 kit is based on EMG1 antibody-EMG1 antigen interactions (immunosorbency) and an HRP colorimetric detection system to detect EMG1 antigen targets in samples. The ELISA Kit is designed to detect native, not recombinant, EMG1. 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(%).

26,720 Da

EMG1 N1-specific pseudouridine methyltransferase

ribosomal RNA small subunit methyltransferase NEP1; EMG1 nucleolar protein homolog; essential for mitotic growth 1; ribosome biogenesis protein NEP1; 18S rRNA Psi1248 methyltransferase; 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1

Ribosomal RNA small subunit methyltransferase NEP1

C2F??[Similar Products]

NEP1_HUMAN

This gene encodes an essential, conserved eukaryotic protein involved in ribosome biogenesis. In yeast, the related protein is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome.[provided by RefSeq, May 2010]

C2F: Involved in 40S ribosomal subunit biogenesis and 18S rRNA processing. Specifically catalyzes the N1-methylation of pseudouridine at position 1248 (Psi1248) in 18S rRNA. Thus, appears to be the methyltransferase involved in the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) in position 1248 in 18S rRNA. Is not able to methylate uridine at this position. Defects in EMG1 are the cause of Bowen-Conradi syndrome (BWCNS). BWCNS is a combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life. Belongs to the NEP1 family.

Protein type: Nucleolus; EC 2.1.1.-; RNA-binding

Chromosomal Location of Human Ortholog: 12p13.3

Cellular Component: cytoplasm; nucleolus; nucleus

Molecular Function: rRNA binding; RNA binding

Biological Process: ribosomal small subunit biogenesis and assembly; rRNA methylation; rRNA processing

Disease: Bowen-conradi Syndrome

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