External Ids for GSC Gene
This gene encodes a member of the bicoid subfamily of the paired (PRD) homeobox family of proteins. The encoded protein acts as a transcription factor and may be autoregulatory. A similar protein in mice plays a role in craniofacial and rib cage development during embryogenesis. [provided by RefSeq, Jul 2008]
GeneCards Summary for GSC Gene
GSC (Goosecoid Homeobox) is a Protein Coding gene. Diseases associated with GSC include short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities and short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome. Among its related pathways are Regulation of nuclear SMAD2/3 signaling and Regulation of retinoblastoma protein. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II transcription factor binding. An important paralog of this gene is PITX3.
UniProtKB/Swiss-Prot for GSC Gene
Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis. In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring (By similarity). Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals.