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Sox3

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Sox3

SRY (sex determining region Y)-box 3
Identifiers
Symbols  ; GHDX; MRGH; PHP; PHPX; SOXB
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Transcription factor SOX-3 is a protein that in humans is encoded by the SOX3 gene.[1][2][1]

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.[3] 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. [2] [4]

See also

References

  1. ^ 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 (Apr 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". Am J Hum Genet 76 (5): 833–49.  
  2. ^ a b "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3". 
  3. ^ Bylund M, Andersson E, Novitch BG, Muhr J (November 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nat. Neurosci. 6 (11): 1162–8.  
  4. ^ Barber, TM, T Cheetham & SG Ball (2004). "X-linked hypopituitarism: clinical and biochemical features of a rare cause of short stature". Endocrine Abstracts 7 (1): 248. 

Further reading

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