LP265686-8
ASXL1 gene
Active
Description
The ASXL1 (additional sex combs like 1, transcriptional regulator) gene [HGNC Gene ID:18318] is located on chromosome 20 at 20q11.21. This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] [NCBI Gene ID:171023] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- ASXL1 gene
- Part Display Name
- ASXL1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-01-05
- Construct for LOINC Short Name
- ASXL1 gene
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- CodeSystem lookup
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