Homo sapiens goosecoid homeobox 2 (GSC2), mRNA.
|RefSeq Version||NM_005315.1, 4885362|
|Organism||Homo sapiens (human)|
|Definition||Homo sapiens goosecoid homeobox 2 (GSC2), mRNA.|
|Product||homeobox protein goosecoid-2|
Summary: 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. [provided by RefSeq].
Sequence Note: This RefSeq record was created from genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by experimental evidence.
|CDS||1..618||Exon (1)||1..259||Exon (2)||260..513||Exon (3)||514..618|
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