38905-6
MLL gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP35654-0 MLL gene
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 mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- MLL gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- MLL gene Mut Tested Bld/T
- Display Name
- MLL gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- MLL gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.15
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-ES | Spanish (Spain) | Gen MLL Análisis de mutaciones para...: |
es-MX | Spanish (Mexico) | Mutaciones del gen MLL analizadas para: |
fr-FR | French (France) | MLL gène mutations recherchées: |
it-IT | Italian (Italy) | MLL, gene, mutazioni testate per: Synonyms: Gene MLL Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | MLH1 유전자 돌연변이 분석용: |
nl-NL | Dutch (Netherlands) | MLL-gen geteste mutaties: Synonyms: MLL gen molgen |
pt-BR | Portuguese (Brazil) | MLL teste para mutação do gene: Synonyms: Identity or presence; |
ru-RU | Russian (Russian Federation) | MLL ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | MLL geni mutasyonlar, test edilen: |
zh-CN | Chinese (China) | MLL 基因 已测试的突变: Synonyms: ALL1 ALL-1 ALL-1; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
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