LP172778-5
SOX10
Active
Description
SOX10 is 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. SOX10 may act as a transcriptional activator after forming a protein complex with other proteins. It also acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in SOX10 are the cause of peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Waardenburg-Shah syndrome and Hirschsprung disease, also called neurologic variant of Waardenburg-Shah syndrome. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia, SOX-10
Basic Part Properties
- Part Display Name
- SOX10
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2013-04-01
- Construct for LOINC Short Name
- SOX10
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP172778-5
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SOX10 Synonyms: SRY 相关转录因子家族成员; |
| es-ES | Spanish (Spain) | SOX10 |
| it-IT | Italian (Italy) | SOX10 |
| tr-TR | Turkish (Turkey) | SOX10 |
| ru-RU | Russian (Russian Federation) | SOX10 |
| nl-NL | Dutch (Netherlands) | SOX10 |
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