Human Inosine-5'-monophosphate dehydrogenase 1 (IMPDH1) ELISA Kit | IMPDH1 elisa kit
Human Inosine-5'-monophosphate dehydrogenase 1, IMPDH1 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Uniprot Description
IMPDH1: Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate- limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors. Defects in IMPDH1 are the cause of retinitis pigmentosa type 10 (RP10). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP10 inheritance is autosomal dominant. Defects in IMPDH1 are the cause of Leber congenital amaurosis type 11 (LCA11). LCA11 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Belongs to the IMPDH/GMPR family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Xenobiotic Metabolism - drug metabolism - other enzymes; EC 1.1.1.205; Oxidoreductase; Nucleotide Metabolism - purine
Chromosomal Location of Human Ortholog: 7q31.3-q32
Cellular Component: nucleoplasm; cytoplasm; cytosol; cell junction; nucleus
Molecular Function: DNA binding; nucleic acid binding; RNA binding; metal ion binding; nucleotide binding; IMP dehydrogenase activity
Biological Process: lymphocyte proliferation; purine ribonucleoside monophosphate biosynthetic process; nucleobase, nucleoside and nucleotide metabolic process; GMP biosynthetic process; purine base metabolic process
Disease: Leber Congenital Amaurosis 11; Retinitis Pigmentosa 10
Research Articles on IMPDH1
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Product Notes
The Human IMPDH1 impdh1 (Catalog #AAA9310913) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9310913 ELISA Kit recognizes Human IMPDH1. It is sometimes possible for the material contained within the vial of "Inosine-5'-monophosphate dehydrogenase 1 (IMPDH1), 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
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