Symbol: Name: ID: |
WBSCR22 Williams Beuren syndrome chromosome region 22 GFS:5520 |
Gene name: | WBSCR22 |
Chromosome: | 7q11.23 |
Previous Symbols: | |
Previous Names: | |
Aliases: | MGC19709, MGC2022, MGC5140, PP3381, WBMT |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1913388 | Rat Genome Database ID: | RGD:1589742 |
HGNC ID: | HGNC:16405 | RefSeq IDs: | NM_001202560 |
Entrez Gene ID: | 114049 | Ensembl Gene ID: | ENSG00000071462 |
VEGA IDs: | OTTHUMG00000023306 | UniProt ID: | O43709 |
UCSC ID: | uc003tyt.2 | OMIM ID: | |
Pubmed: | PMID12073013 PMID 11978965 | ||
CCDS IDs: | CCDSCCDS5557.1 |
Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.
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].
Function: Methyltransferase that may act on DNA.
Products for WBSCR22 gene
Catalog | Product Name | Application | Company |
GFS:E05520 | Williams Beuren syndrome chromosome region 22; ELISA kit | ELISA | n/a |
GFS:A05520 | Williams Beuren syndrome chromosome region 22; Anti | ANTIBODIES | n/a |
GFS:P05520 | Williams Beuren syndrome chromosome region 22; Protien | Protien | n/a |