ABHD11

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ABHD11
Identifiers
Aliases ABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDs MGI: 1916008 HomoloGene: 5961 GeneCards: ABHD11
RNA expression pattern
PBB GE ABHD11 221927 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190437
NM_145215

RefSeq (protein)

NP_660250.1
NP_001177366
NP_660250

Location (UCSC) Chr 7: 73.74 – 73.74 Mb Chr 5: 135.01 – 135.01 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4]

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.[4]

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

External links[edit]

Further reading[edit]