LEPREL1 cdna clone
LEPREL1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Uniprot Description
LEPREL1: Shows prolyl 3-hydroxylase activity catalyzing the post- translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types II, IV and V. Defects in LEPREL1 are the cause of myopia high with cataract and vitreoretinal degeneration (MCVD). A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. Belongs to the leprecan family.
Protein type: EC 1.14.11.7; Oxidoreductase
Chromosomal Location of Human Ortholog: 3q28
Cellular Component: basement membrane; endoplasmic reticulum; endoplasmic reticulum lumen; Golgi apparatus
Molecular Function: procollagen-proline 3-dioxygenase activity
Biological Process: collagen metabolic process; negative regulation of cell proliferation; peptidyl-proline hydroxylation
Disease: Myopia, High, With Cataract And Vitreoretinal Degeneration
Research Articles on LEPREL1
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Product Notes
The LEPREL1 p3h2 (Catalog #AAA1266612) 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: atggaaatgc agcagaacat tgagaattac agggcgacag ctggtgttga agcattgcag ttggtagaca gagaagccaa gccacacatg gagagttaca atgcaggagt taaacattat gaggctgatg actttgagat ggctatcagg catttcgaac aagccttaag agaatatttc gttgaagata cagaatgccg gaccctatgt gaggggcctc agagatttga agaatatgag tatttagggt ataaggctgg tctgtatgaa gctattgcag atcactacat gcaggtgctt gtttgtcagc atgaatgtgt gagggaactt gccacccgcc ctggccgcct ctctcccatc gagaattttc ttcctctgca ctatgattac ctacagtttg cctactatcg agttggtgag tatgtgaaag ccctggagtg tgccaaagcc tatcttctat gccatccaga tgatgaggat gtcctagaca atgtggatta ctatgagagt ctgctggatg atagcattga cccggcatcc attgaggcca gagaggattt aacaatgttt gtgaaacgtc ataagctgga gtctgagctg ataaaatcag ctgcagaagg tctggggttt tcatacactg aaccgaatta ttggatcaga tatggaggac gacaggatga gaatcgggtc ccttcaggag tgaacgtaga gggagcagaa gttcatggat tctcaatggg aaaaaagcta tcacccaaga tagatcgaga cctaagagaa ggtggtcctc tactctatga gaacatcaca ttcgtctaca actcggagca gctgaacggg actcagcggg ttctcctgga taacgtcctg tcggaagaac agtgccggga gctccacagc gtggccagtg gaatcatgct tgttggtgat ggatacagag gaaaaacttc accccataca cccaatgaaa agtttgaagg tgcaactgtc ctgaaagcac tcaaatctgg ttatgaaggt cgagtcccac tgaagagcgc tcgtctgttt tatgacatca gcgaaaaggc tcgaaggatt gtagaatctt attttatgct gaactcaact ctgtattttt cctatacaca catggtctgc cgaacagccc tgtctggtca gcaggataga agaaatgacc tcagtcatcc catccatgct gacaactgtt tgttggatcc agaggccaac gaatgctgga aggagcctcc tgcttacaca tttcgagact atagtgctct cctatatatg aatgatgact ttgaaggagg agaattcata ttcacagaga tggatgctaa gactgtgact gcctctataa aaccaaaatg tgggcgcatg atcagcttct catctggagg agagaaccct catggggtga aggcagtcac caagggaaag aggtgtgctg tggctctgtg gttcaccttg gacccacttt atagagaatt ggagcgaata caggctgatg aagtgattgc aattctggat caagaacagc aagggaagca tgaactgaat atcaacccta aagatgagct ataa. It is sometimes possible for the material contained within the vial of "LEPREL1, 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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