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ABHD11

From Wikipedia, the free encyclopedia
ABHD11
Identifiers
AliasesABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDsMGI: 1916008; HomoloGene: 5961; GeneCards: ABHD11; OMA:ABHD11 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001190437
NM_145215

RefSeq (protein)

NP_001177366
NP_660250

Location (UCSC)Chr 7: 73.74 – 73.74 MbChr 5: 135.04 – 135.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6]

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.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106077Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040532Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 29964959.
  6. ^ a b "Entrez Gene: ABHD11 abhydrolase domain containing 11".
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Further reading

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