ABHD11

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]

ABHD11
Identifiers
AliasesABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDsMGI: 1916008 HomoloGene: 5961 GeneCards: ABHD11
Orthologs
SpeciesHumanMouse
Entrez

83451

68758

Ensembl

ENSG00000106077

ENSMUSG00000040532

UniProt

Q8NFV4

Q8K4F5

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

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

  1. GRCh38: Ensembl release 89: ENSG00000106077 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000040532 - Ensembl, 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. "Entrez Gene: ABHD11 abhydrolase domain containing 11".

Further reading


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