| Entrez gene ID | | 171023 |
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| Official gene symbol | | ASXL1 |
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| Full name | | additional sex combs like 1 (Drosophila) |
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| Aliases | | ,KIAA0978,MGC117280,MGC71111, |
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| Gene summary | | 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] |
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| Location | | Chromosome: 20 Locus: 20q11.1 |
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| Gene position | | 30946147 - 31027122 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 80976 bp |
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| Gene sequence |
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| OMIM ID | | 612990 |
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