SOX10

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SRY (sex determining region Y)-box 10
Identifiers
Symbols SOX10 ; DOM; PCWH; WS2E; WS4; WS4C
External IDs OMIM602229 MGI98358 HomoloGene5055 GeneCards: SOX10 Gene
RNA expression pattern
PBB GE SOX10 209842 at tn.png
PBB GE SOX10 209843 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6663 20665
Ensembl ENSG00000100146 ENSMUSG00000033006
UniProt P56693 Q04888
RefSeq (mRNA) NM_006941 NM_011437
RefSeq (protein) NP_008872 NP_035567
Location (UCSC) Chr 22:
38.37 – 38.38 Mb
Chr 15:
79.15 – 79.16 Mb
PubMed search [1] [2]

Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.[1][2][3][4]

Function[edit]

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease.[4]

In melanocytic cells there is evidence that SOX10 gene expression may be regulated by MITF.[5]

Clinical significance[edit]

Mutations in SOX10 are associated to uveal melanoma .[6]

Interactions[edit]

SOX10 has been shown to interact with PAX3.[7][8]

See also[edit]

References[edit]

  1. ^ Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Préhu MO, Puliti A et al. (February 1998). "SOX10 mutations in patients with Waardenburg-Hirschsprung disease". Nat. Genet. 18 (2): 171–3. doi:10.1038/ng0298-171. PMID 9462749.  Vancouver style error (help)
  2. ^ Bondurand N, Kuhlbrodt K, Pingault V, Enderich J, Sajus M, Tommerup N et al. (January 2000). "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies". Hum. Mol. Genet. 8 (9): 1785–9. doi:10.1093/hmg/8.9.1785. PMID 10441344.  Check date values in: |year= / |date= mismatch (help)
  3. ^ Huber WE, Price ER, Widlund HR, Du J, Davis IJ, Wegner M et al. (November 2003). "A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes". J. Biol. Chem. 278 (46): 45224–30. doi:10.1074/jbc.M309036200. PMID 12944398. 
  4. ^ a b "Entrez Gene: SOX10 SRY (sex determining region Y)-box 10". 
  5. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  6. ^ Das D, Kaur I, Ali MJ, Biswas NK, Das S, Kumar S et al. (2014). "Exome sequencing reveals the likely involvement of SOX10 in uveal melanoma". Optom Vis Sci 91 (7): e185–92. doi:10.1097/OPX.0000000000000309. PMID 24927141. 
  7. ^ Lang D, Epstein JA (April 2003). "Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer". Hum. Mol. Genet. 12 (8): 937–45. doi:10.1093/hmg/ddg107. PMID 12668617. 
  8. ^ Bondurand N, Pingault V, Goerich DE, Lemort N, Sock E, Le Caignec C et al. (August 2000). "Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome". Hum. Mol. Genet. 9 (13): 1907–17. doi:10.1093/hmg/9.13.1907. PMID 10942418. 

Further reading[edit]

External links[edit]

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