WBSCR22

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BUD23
Identifiers
Aliases BUD23, HASJ4442, HUSSY-3, MERM1, PP3381, WBMT, WBSCR22, Williams-Beuren syndrome chromosome region 22, rRNA methyltransferase and ribosome maturation factor
External IDs MGI: 1913388 HomoloGene: 5486 GeneCards: BUD23
RNA expression pattern
PBB GE WBSCR22 207628 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001202560
NM_017528

NM_025375

RefSeq (protein)

NP_001189489
NP_059998

NP_079651.2
NP_079651

Location (UCSC) Chr 7: 73.68 – 73.71 Mb Chr 5: 135.05 – 135.06 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Uncharacterized methyltransferase WBSCR22 is an enzyme that in humans is encoded by the WBSCR22 gene.[3][4][5]

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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Merla G, Ucla C, Guipponi M, Reymond A (Jun 2002). "Identification of additional transcripts in the Williams-Beuren syndrome critical region". Hum Genet. 110 (5): 429–38. doi:10.1007/s00439-002-0710-x. PMID 12073013. 
  4. ^ Doll A, Grzeschik KH (Apr 2002). "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome". Cytogenet Cell Genet. 95 (1-2): 20–7. doi:10.1159/000057012. PMID 11978965. 
  5. ^ a b "Entrez Gene: WBSCR22 Williams Beuren syndrome chromosome region 22". 

Further reading[edit]