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Sex Determining Region Y Box Protein 10 (SOX10)

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DOM; WS4; Dominant Megacolon; Transcription factor SOX-10

Sex Determining Region Y Box Protein 10 (SOX10)
CCC G330
HGNC 11190
MGI 98358
PubMed 9412504
RGD 3735
UniProt P56693
Wiki SOX10
SOX10 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. During development, SOX10 first appeared in the forming neural crest and continued to be expressed as these cells contributed to the forming peripheral nervous system and finally differentiated into Schwann cells. In the central nervous system, SOX10 transcripts were originally confined to glial precursors and later detected in oligodendrocytes of the adult brain.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sex Determining Region Y Box Protein 10 (SOX10) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sex Determining Region Y Box Protein 10 (SOX10) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sex Determining Region Y Box Protein 10 (SOX10) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sex Determining Region Y Box Protein 10 (SOX10) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sex Determining Region Y Box Protein 10 (SOX10) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sex Determining Region Y Box Protein 10 (SOX10) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sex Determining Region Y Box Protein 10 (SOX10) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sex Determining Region Y Box Protein 10 (SOX10) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sex Determining Region Y Box Protein 10 (SOX10) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sex Determining Region Y Box Protein 10 (SOX10) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sex Determining Region Y Box Protein 10 (SOX10) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sex Determining Region Y Box Protein 10 (SOX10) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sex Determining Region Y Box Protein 10 (SOX10) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sex Determining Region Y Box Protein 10 (SOX10) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sex Determining Region Y Box Protein 10 (SOX10) ELISA Kit Customized Service Offer
  1. "SOX10 mutations in patients with Waardenburg-Hirschsprung disease."Nat. Genet. 18:171-173(1998) [PubMed] [Europe PMC] [Abstract]
  2. "The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor."Hum. Genet. 103:115-123(1998) [PubMed] [Europe PMC] [Abstract]
  3. "A genome annotation-driven approach to cloning the human ORFeome."Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence of human chromosome 22." Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients."J. Biol. Chem. 273:23033-23038(1998) [PubMed] [Europe PMC] [Abstract]
  8. "Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation."Mol. Cell. Biol. 22:5826-5834(2002) [PubMed] [Europe PMC] [Abstract]
  9. "Large-scale proteomics analysis of the human kinome."Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
  10. "A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies."Hum. Mol. Genet. 8:1785-1789(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain."Am. J. Hum. Genet. 66:1496-1503(2000) [PubMed] [Europe PMC] [Abstract]
  12. ErratumAm. J. Hum. Genet. 66:2020-2020(2000)
  13. "Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations."Nat. Genet. 36:361-369(2004) [PubMed] [Europe PMC] [Abstract]
  14. "Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4."Am. J. Hum. Genet. 81:1169-1185(2007) [PubMed] [Europe PMC] [Abstract]
  15. "A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV."Am. J. Med. Genet. A 146:1032-1037(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation."Am. J. Med. Genet. A 149:431-436(2009) [PubMed] [Europe PMC] [Abstract]
  17. "Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome."Hum. Mutat. 32:1436-1449(2011) [PubMed] [Europe PMC] [Abstract]
  18. "The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients." J. Clin. Endocrinol. Metab. 99:E2138-2143(2014) [PubMed] [Europe PMC] [Abstract]