ABHD11

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Abhydrolase domain containing 11
Identifiers
Symbol(s) ABHD11; PP1226; WBSCR21
External IDs MGI: 1916008 HomoloGene: 5961
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 83451 68758
Ensembl ENSG00000106077 ENSMUSG00000040532
Refseq NM_031295 (mRNA)
NP_112585 (protein)		 NM_145215 (mRNA)
NP_660250 (protein)
Location Chr 7: 72.79 - 72.79 Mb Chr 5: 135.29 - 135.3 Mb
Pubmed search [1] [2]

Abhydrolase domain containing 11, also known as ABHD11, is a human gene.[1]

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.[1]

[edit] References

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

[edit] Further reading

  • Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006.". Nucleic Acids Res. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMID 16381901. 
  • Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression.". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724-9. doi:10.1073/pnas.0404089101. PMID 15498874. 
  • Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline.". Genome Res. 14 (10B): 2136-44. doi:10.1101/gr.2576704. PMID 15489336. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157-64. doi:10.1038/nature01782. PMID 12853948. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Merla G, Ucla C, Guipponi M, Reymond A (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. 
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination.". Genome Res. 10 (11): 1788-95. PMID 11076863. 
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