Human EMG1 nucleolar protein homolog (S. cerevisiae) ELISA Kit | EMG1 elisa kit
Human Ribosomal RNA small subunit methyltransferase NEP1, EMG1 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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
Research Articles on EMG1
Similar Products
Product Notes
The Human EMG1 emg1 (Catalog #AAA9334427) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9334427 ELISA Kit recognizes Human EMG1. It is sometimes possible for the material contained within the vial of "EMG1 nucleolar protein homolog (S. cerevisiae), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
If you are ready to order, navigate to Shopping Cart and get ready to checkout.
