SOX3

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SRY (sex determining region Y)-box 3
Identifiers
Symbols SOX3 ; GHDX; MRGH; PHP; PHPX; SOXB
External IDs OMIM313430 MGI98365 HomoloGene4118 GeneCards: SOX3 Gene
RNA expression pattern
PBB GE SOX3 214633 at tn.png
More reference expression data
Orthologs
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:
139.59 – 139.59 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]

References[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 (Apr 2005). "Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism". Am J Hum Genet 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 (November 2003). "Vertebrate neurogenesis is counteracted by Sox1-3 activity". Nat. Neurosci. 6 (11): 1162–8. doi:10.1038/nn1131. PMID 14517545. 
  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. 

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