| Modification Notes |
GSC2 (homeobox protein goosecoid-2), also known as GSCL (homeobox protein goosecoid-like), is a 205 amino acid nuclear protein that shares high homolgy to GSC, a protein involved in the development of the lower mandible and its associated musculature as well as components of the inner ear and the external auditory meatus. Since its expression pattern begins in early embryo, GSC2 may play an indirect role in the development of neural crest derived structures. Due to its chromosomal location and its role in early development, the gene encoding GSC2 is a major candidate for del22q11.2 (DiGeorge or velocardiofacial) syndrome, a disease characterized by craniofacial defects, thymic hypoplasia, cardiovascular anomalies, velopharyngeal insufficiency and skeletal muscle hypotonia. |