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Gene Review

GSC2  -  goosecoid homeobox 2

Homo sapiens

Synonyms: GSC-2, GSC-L, GSCL, Homeobox protein goosecoid-2, Homeobox protein goosecoid-like
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Disease relevance of GSCL


Psychiatry related information on GSCL

  • This expression pattern is consistent with GSCL having either an indirect role in the development of neural crest-derived structures or a direct role in a subset of the phenotype observed in DGS/VCFS, such as learning disorders or psychiatric disease [3].

High impact information on GSCL

  • The identification of GSCL required a genomic sequence-based approach because of its restricted expression and high GC content [1].
  • A yeast 2-hybrid screen was performed to identify possible transcriptional modulators interactive with goosecoid-like (gscl), a transcription factor with suppressive activity, expressed during early brain and gonad development [4].
  • It is possible that the vertebrate GSCL gene is also required for embryonic development [5].

Analytical, diagnostic and therapeutic context of GSCL


  1. The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. Gottlieb, S., Emanuel, B.S., Driscoll, D.A., Sellinger, B., Wang, Z., Roe, B., Budarf, M.L. Am. J. Hum. Genet. (1997) [Pubmed]
  2. Chromosomal and genetic abnormalities in benign and malignant meningiomas using DNA microarray. Wada, K., Maruno, M., Suzuki, T., Kagawa, N., Hashiba, T., Fujimoto, Y., Hashimoto, N., Izumoto, S., Yoshimine, T. Neurol. Res. (2005) [Pubmed]
  3. Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain. Gottlieb, S., Hanes, S.D., Golden, J.A., Oakey, R.J., Budarf, M.L. Hum. Mol. Genet. (1998) [Pubmed]
  4. Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region. Galili, N., Nayak, S., Epstein, J.A., Buck, C.A. Dev. Dyn. (2000) [Pubmed]
  5. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. Funke, B., Saint-Jore, B., Puech, A., Sirotkin, H., Edelmann, L., Carlson, C., Raft, S., Pandita, R.K., Kucherlapati, R., Skoultchi, A., Morrow, B.E. Genomics (1997) [Pubmed]
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