OPHN1 cdna clone
OPHN1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
Uniprot Description
OPHN1: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Defects in OPHN1 are the cause of mental retardation X- linked OPHN1-related (MRXSO); formerly designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.
Protein type: GAPs; GAPs, Rac/Rho; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: Xq12
Cellular Component: cytosol
Molecular Function: GTPase activator activity; phospholipid binding
Biological Process: axon guidance; nervous system development; regulation of small GTPase mediated signal transduction; substrate-bound cell migration, cell extension
Disease: Mental Retardation, X-linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance
Research Articles on OPHN1
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Product Notes
The OPHN1 ophn1 (Catalog #AAA1276157) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgggtcatc ccccgctgga gttcagcgac tgctacctgg acagccccga tttccgcgag aggctcaagt gttatgagca ggaactggag aggaccaaca aattcatcaa agacgtaatc aaagacggca acgcgcttat cagcgctatg agaaattatt cttctgctgt tcagaaattt tcccagacgc tgcagtcatt tcagtttgat ttcattggag acactctgac tgatgatgaa attaacatcg ctgaatcctt caaggaattt gctgaattgc tcaacgaggt agaaaatgag aggatgatga tggtacacaa tgctagtgat ttgctgatta aacccttgga aaatttccgg aaggaacaaa taggcttcac caaggagcgg aaaaagaaat ttgaaaagga tggtgagagg ttttattctt tactggatcg gcacttacac ctgtcttcaa aaaagaaaga atctcagtta caagaggcag acctacaggt ggacaaggag aggcacaatt ttttcgagtc ctctcttgat tatgtttatc aaatccagga agttcaggag tccaagaagt tcaatattgt ggagcctgtc ttggcctttc ttcatagtct gttcatttct aacagcctga ctgtggagct cacacaggat ttcctcccat acaaacaaca gctccaactc agtttacaga atacaagaaa tcatttctcc agtacccggg aagagatgga agaacttaag aaaaggatga aagaagctcc ccagacatgc aaacttccag gacagccaac tattgaaggc tatctctata cacaagagaa atgtgtgtgg ggacataggg gtatccattg ggtttcaata agccaggaac tactgccact tgtcggctgt gaattttggg cacccttact gttcatagac ccctga. It is sometimes possible for the material contained within the vial of "OPHN1, cDNA Clone" 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
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