GSC2: Proteins and Enzymes

Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11.Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacialanomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes areassociated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derivefrom the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved inembryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues,as well as in early human development. (provided by RefSeq)