ABHD11

ABHD11
Identifiers
Aliases ABHD11, WBSCR21, PP1226, abhydrolase domain containing 11
External IDs MGI: 1916008 HomoloGene: 5961 GeneCards: ABHD11
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

83451

68758

Ensembl

ENSG00000106077

ENSMUSG00000040532

UniProt

Q8NFV4

Q8K4F5

RefSeq (mRNA)

NM_001190437
NM_145215

RefSeq (protein)

NP_001138836.1
NP_001287987.1
NP_683710.1
NP_683711.1
NP_001308311.1

NP_660250.1

Location (UCSC) Chr 7: 73.74 – 73.74 Mb Chr 5: 135.01 – 135.01 Mb
PubMed search [1] [2]
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.[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

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

External links

Further reading


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