ABHD11

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Abhydrolase domain containing 11
Identifiers
Symbols ABHD11 ; WBSCR21
External IDs MGI1916008 HomoloGene5961 GeneCards: ABHD11 Gene
EC number 3.-.-.-
RNA expression pattern
PBB GE ABHD11 221927 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 83451 68758
Ensembl ENSG00000106077 ENSMUSG00000040532
UniProt Q8NFV4 Q8K4F5
RefSeq (mRNA) NM_001145363 NM_001190437
RefSeq (protein) NP_001138836 NP_001177366
Location (UCSC) Chr 7:
73.15 – 73.15 Mb
Chr 5:
135.01 – 135.01 Mb
PubMed search [1] [2]

Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an enzyme that in humans is encoded by the ABHD11 gene.[1][2]

This gene encodes a protein containing an alpha/beta hydrolase fold domain. 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 described, but their biological validity has not been determined.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: ABHD11 abhydrolase domain containing 11". 

Further reading[edit]