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. [provided by RefSeq, Jul 2008].
Müller, Föll, Heckelmann, Kiefer, Werner, Schilling, Biniossek, Jilg, Drendel: "Proteomic Characterization of Prostate Cancer to Distinguish Nonmetastasizing and Metastasizing Primary Tumors and Lymph Node Metastases." in: Neoplasia (New York, N.Y.), Vol. 20, Issue 2, pp. 140-151, (2018) (PubMed).