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SOX10
Transcription factor SOX-10 is a protein that in humans is encoded by the ''SOX10'' gene. Function This gene encodes a member of the SOX gene family, SOX (Testis-determining factor, SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and determination of cell fate determination, cell fate. The encoded protein acts 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. In melanocyte, melanocytic cells, there is evidence that SOX10 gene expression may be regulated by Microphthalmia-associated transcription factor, MITF. Mutations Mutations in this gene are associated with Waardenburg–Shah syndrome and uveal melanoma. Immunostain SOX10 is used as an immunohistochemistry marker, being positive in: Topic Completed: 1 February 2014. Revised: 20 September 2019 *Neuro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Waardenburg Syndrome
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or Heterochromia iridum, one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with Camptodactyly, permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities. The syndrome is caused by mutations in any of several genes that affect the Cell division, division and Cell migration, migration of neural crest cells d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
