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.Merla G., Hum. Genet. 110:429-438(2002). Hillier L.W., Nature 424:157-164(2003). The MGC Project Team; Genome Res. 14:2121-2127(2004).
Host
Rabbit
Immunogen
Synthesized peptide derived from internal of Human ABHD11.
Involvement In Disease
ABHD11 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Raised In
Rabbit
Reactivity
Human
Regulatory
RUO
Relevance
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.