LP33228-5
MLL gene rearrangements
Active
Description
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
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- MLL gene rearrangements
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-24
- Construct for LOINC Short Name
- MLL gene Rear
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | MLL 基因重排 Synonyms: MLL 基因重排（重组）; |
| et-EE | Estonian (Estonia) | MLL geeni muudatused |
| es-ES | Spanish (Spain) | Reagrupamientos gen MLL |
| it-IT | Italian (Italy) | MLL, riarrangiamenti gene Synonyms: Riarrangiamenti gene MLL |
| tr-TR | Turkish (Turkey) | MLL geni yeniden düzenlemeler |
| ru-RU | Russian (Russian Federation) | MLL ген перестройки |
| nl-NL | Dutch (Netherlands) | MLL genherschikking Synonyms: MLL gentranslocaties |
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