HOME
        TheInfoList






NM_005634

NM_009237

RefSeq (protein)

NP_005625

n/a

Location (UCSC) Chr X: 140.5 – 140.51 Mb Chr X: 60.89 – 60.89 Mb PubMed search [3] [4] Wikidata
View/Edit Human View/Edit Mouse

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.[5][6][5]

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator.[7] Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism. [6] [8]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134595 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000045179 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT (May 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". American Journal of Human Genetics. 76 (5): 833–49. doi:10.1086/430134. PMC 1199372Freely accessible. PMID 15800844. 
  6. ^ a b "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3". 
  7. ^ Bylund M, Andersson E, Novitch BG, Muhr J (Nov 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nature Neuroscience. 6 (11): 1162–8. doi:10.1038/nn1131. PMID 14517545. 
  8. ^ Barber, TM, Cheetham T, Ball SG (2004). "X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature". Endocrine Abstracts. 7 (1): 248. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.