Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Antibody detects endogenous levels of total GSC2.
Goosecoidlike (GSCL) resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (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.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, 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: GSC-2; GSC-L; Homeobox protein goosecoid-2; Homeobox protein goosecoid-like
Gene Aliases: 4930568H22Rik; GSC-2; GSC2; GSCL
UniProt ID: (Human) O15499, (Mouse) P56916
Entrez Gene ID: (Human) 2928, (Mouse) 195333
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