LP310274-8
CSF3R gene exons 14 & 17
Active
Description
The CSF3R (colony stimulating factor 3 receptor) gene [HGNC Gene ID:2439] is located on chromosome 1 at 1p34.3. The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010] [NCBI Gene ID: 2439] Mutations in two functional domains of CSF3R, exon 14 (the membrane proximal region) and exon 17 (the cytoplasmic region), have been found to be associated with myeloid neoplasms, including atypical chronic myeloid leukemia and chronic neutrophilic leukemia PMID: 25858548. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- CSF3R gene exons 14 & 17
- Part Display Name
- CSF3R gene exons 14 and 17
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2019-03-15
- Construct for LOINC Short Name
- CSF3R gene exon 14+17
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | CSF3R 基因外显子 14 与 17 Synonyms: CSF3R 基因外显子 14 & 17 |
| it-IT | Italian (Italy) | Esoni 14 & 17 del gene CSF3R Synonyms: Esoni 14 e 17 del gene CSF3R |
| fr-FR | French (France) | CSF3R gène exons 14 et 17 |
| es-ES | Spanish (Spain) | Exones 14 y 17 del gen CSF3R |
| pl-PL | Polish (Poland) | CSF3R gen eksony 14 & 17 Synonyms: Eksony 14 i 17 genu CSF3R |
| el-GR | Greek (Greece) | Γονίδιο CSF3R εξώνια 14 & 17 Synonyms: Γονίδιο CSF3R εξώνια 14 & 17 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://