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).
应用类型
WB
免疫原
Synthesized peptide derived from internal of human ABHD11.
