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SRY (sex determining region Y)-box 3
External IDs OMIM313430 MGI98365 HomoloGene4118 GeneCards: SOX3 Gene
RNA expression pattern
PBB GE SOX3 214633 at tn.png
More reference expression data
Species Human Mouse
Entrez 6658 20675
Ensembl ENSG00000134595 ENSMUSG00000045179
UniProt P41225 P53784
RefSeq (mRNA) NM_005634 NM_009237
RefSeq (protein) NP_005625 NP_033263
Location (UCSC) Chr X:
140.5 – 140.51 Mb
Chr X:
60.89 – 60.89 Mb
PubMed search [1] [2]

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[edit]


  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 (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 1199372. PMID 15800844. 
  2. ^ a b "Entrez Gene: SOX3 SRY (sex determining region Y)-box 3". 
  3. ^ 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. 
  4. ^ 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. 

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