Goosecoid 2 (GSC2)
GSCL; Goosecoid-Like
 HGNC 4613
 MGI 892006
 OMIM 601845
 RGD 1305333
 UCSC uc011ags.1
 UniProt O15499
 USCN 97959
Goosecoid 2 (GSC2)
Goosecoid like (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, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions.
Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic 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.
Research reagent products of Goosecoid 2 (GSC2)
Organism
Protein
Antibody
ELISA Kit
CLIA Kit
Catalog Manual McAb PcAb Catalog Manual Catalog Manual
Homo sapiens (Human)n/an/an/an/a n/an/an/an/a
Mus musculus (Mouse)n/an/an/an/a n/an/an/an/a
Rattus norvegicus (Rat)n/an/an/an/a n/an/an/an/a