LP265716-3
SETBP1 gene
Active
Description
The SETBP1 gene (SET binding protein 1) [HGNC Gene ID:15573] is located on chromosome 18q12.3. This gene encodes a protein which contains several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] [NCBI Gene ID:26040] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Display Name
- SETBP1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- SETBP1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP265716-3
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | SETBP1, gene Synonyms: Gene SETBP1 |
| es-ES | Spanish (Spain) | Gen SETBP1 |
| zh-CN | Chinese (China) | SETBP1 基因 |
| nl-NL | Dutch (Netherlands) | SETBP1-gen |
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