WBSCR22 cdna clone
WBSCR22 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
Uniprot Description
WBSCR22: Methyltransferase that may act on DNA. WBSCR22 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. Belongs to the methyltransferase superfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Lipid Metabolism - androgen and estrogen; Amino Acid Metabolism - tyrosine; Methyltransferase; Other Amino Acids Metabolism - selenoamino acid; EC 2.1.1.-; Amino Acid Metabolism - histidine
Chromosomal Location of Human Ortholog: 7q11.23
Cellular Component: nucleoplasm
Biological Process: rRNA methylation
Research Articles on WBSCR22
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Product Notes
The WBSCR22 wbscr22 (Catalog #AAA1267663) 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: atgattgata tccagaccag gatggctggg cgagcattgg agcttcttta tctgccagag aataagccct gttacctgct ggatattggc tgtggcactg ggctgagtgg aagttatctg tcagatgaag ggcactattg ggtgggcctg gatatcagcc ctgccatgct ggatgaggct gtggaccgag agatagaggg agacctgctg ctgggggata tgggccaggg catcccattc aagccaggca catttgatgg ttgcatcagc atttctgctg tgcagtggct ctgtaatgct aacaagaagt ctgaaaaccc tgccaagcgc ctgtactgct tttttgcttc tcttttttct gttctcgtcc ggggatcccg agctgtcctg cagctgtacc ctgagaactc agagcagttg gagctgatca caacccaggc cacaaaggca ggcttctccg gtggcatggt ggtagactac cctaacagtg ccaaagcaaa gaaattctac ctctgcttgt tttctgggcc ttcgaccttt ataccagagg ggctgagtga aaatcaggat gaagttgaac ccagggagtc tgtgttcacc aatgagaggt tcccattaag gatgtcgagg cggggaatgg tgaggaagag tcgggcatgg gtgctggaga agaaggagcg gcacaggcgc cagggcaggg aagtcagacc tgacacccag tacaccggcc gcaagcgcaa gccccgcttc taa. It is sometimes possible for the material contained within the vial of "WBSCR22, 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
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