75033-1
MPL gene mutations tested for in Bone marrow by Molecular genetics method Nominal
Active
Part Description
LP95534-1 MPL gene
The MPL gene (MPL proto-oncogene, thrombopoietin receptor) [HGNC Gene ID:7217] is located on chromosome 1p34. In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4352]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MPL gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bone mar
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- MPL gene mutations tested for in Bone marrow by Molecular genetics method Nominal
- Short Name
- MPL gene Mut Tested Mar
- Display Name
- MPL gene mutations tested for Molgen Nom (BM)
- Consumer Name Alpha Get Info
- MPL gene variants tested for, Bone marrow
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.48
- Last Updated
- Version 2.48 (MIN)
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| el-GR | Greek (Greece) | Γονίδιο MPL εξετασθείσες μεταλλάξεις: Synonyms: Prid Γονίδιο Γονίδιο MPL Μεταλλάξεις |
| es-ES | Spanish (Spain) | Gen MPL Análisis de mutaciones para...: |
| es-MX | Spanish (Mexico) | Mutaciones del gen MPL analizadas para: |
| fr-FR | French (France) | MPL gène mutations recherchées: |
| it-IT | Italian (Italy) | MPL, gene, mutazioni testate per: Synonyms: Gene MPL Genetica molecolare Midollo osseo Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) testato |
| nl-NL | Dutch (Netherlands) | MPL-gen geteste mutaties: Synonyms: molgen MPL gen |
| pt-BR | Portuguese (Brazil) | MPL gene teste para mutações: |
| ru-RU | Russian (Russian Federation) | MPL ген мутации тестирован на: Synonyms: Номинальный; |
| tr-TR | Turkish (Turkey) | MPL geni mutasyonlar, test edilen: |
| zh-CN | Chinese (China) | MPL 基因 已测试的突变: Synonyms: C-MPL; |
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=75033-1
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