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ABHD11 - wikidoc

ABHD11

Jump to: navigation, search VALUE_ERROR (nil) Identifiers Aliases External IDsGeneCards: [1] Orthologs SpeciesHuman Mouse Entrez

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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

  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. 2.0 2.1 "Entrez Gene: ABHD11 abhydrolase domain containing 11".

External links

Further reading

Hydrolase: esterases (EC 3.1) 3.1.1: Carboxylic
ester hydrolases 3.1.2: Thioesterase 3.1.3: Phosphatase 3.1.4:
Phosphodiesterase 3.1.6: Sulfatase Nuclease (includes
deoxyribonuclease
and ribonuclease) 3.1.11-16:
Exonuclease Exodeoxyribonuclease Exoribonuclease 3.1.21-31:
Endonuclease Endodeoxyribonuclease Endoribonuclease either deoxy- or ribo- Enzymes Activity Regulation Classification Kinetics Types


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