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Invitrogen
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Peptide sequence: LEALFVQNQY PDVSTRERLA GRIRLREERV EVWFKNRRAK WRHQKRASAS
Sequence homology: Cow: 93%; Dog: 93%; Guinea Pig: 100%; Horse: 85%; Human: 100%; Mouse: 100%; Rabbit: 85%; Rat: 100%; Zebrafish: 91%
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: GSC-2; GSC-L; Homeobox protein goosecoid-2; Homeobox protein goosecoid-like
基因别名: GSC2; GSCL
UniProt ID: (Human) O15499
Entrez Gene ID: (Human) 2928