35454-8
MLL gene rearrangements in Blood or Tissue by Molecular genetics method
Active
Part Description
LP33228-5 MLL gene rearrangements
The MLL gene (lysine (K)-specific methyltransferase 2A) [HGNC Gene ID: 7132] is located on chromosome 11q23. This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010] [NCBI Gene ID:4297]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- MLL gene rearrangements
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Long Common Name
- MLL gene rearrangements in Blood or Tissue by Molecular genetics method
- Short Name
- MLL gene Rear Bld/T
- Display Name
- MLL gene rearrangements Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- MLL gene rearrangements, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.REARRANGE
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 17974
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | reordenamientos del gen MLL: |
es-ES | Spanish (Spain) | Reagrupamientos gen MLL: |
es-MX | Spanish (Mexico) | Reordenamientos del gen MLL: |
fr-FR | French (France) | MLL gène réarrangements: |
it-IT | Italian (Italy) | MLL, riarrangiamenti gene: Synonyms: Gene MLL Genetica molecolare Osservazione Patologia molecolare Punto nel tempo (episodio) Riarrangiamenti gene MLL Riarrangiamento genico Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | MLL 유전자 재배열: |
nl-NL | Dutch (Netherlands) | MLL genherschikking: Synonyms: MLL gen MLL gentranslocaties molgen |
pt-BR | Portuguese (Brazil) | MLL rearranjos do gene: Synonyms: ; |
ru-RU | Russian (Russian Federation) | MLL ген перестройки: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
tr-TR | Turkish (Turkey) | MLL geni yeniden düzenlemeler: |
zh-CN | Chinese (China) | MLL 基因重排: Synonyms: ALL1 ALL-1 ALL-1; |
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=35454-8
LOINC Copyright
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