Details of Epigenetic Molecule(EM)
| General Information of EM (ID: EM12202) | |||||||
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| Official Symbol |
MBNL3
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| Official Full Name |
Muscleblind Like Splicing Regulator 3
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| Synonym |
Muscleblind Like Splicing Regulator 3;MBLX39;CHCR;MBXL;Muscleblind-Like X-Linked Protein;Cys3His CCG1-Required Protein;Muscleblind-Like 3;Protein HCHCR;Muscleblind-Like Splicing Regulator 3
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| Molecule Type |
Protein coding
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| Position On Chromosome |
chrX(Start:132369317 - End:132490035)
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| Strand |
-
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| Uniprot Entry | |||||||
| ENSG ID | |||||||
| Disease Relevance (Click to Show/Hide) | |||||||
| 8A01: Choreiform disorders | Huntington's disease (HD) [Choreiform disorders] | ||||||
| Detailed Information |
Disease Link
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| 8A20: Alzheimer disease | Alzheimer's disease [Alzheimer disease] | ||||||
| Detailed Information |
Disease Link
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| LD2C: Overgrowth syndromes | Sotos syndrome(SS) [Overgrowth syndromes] | ||||||
| Detailed Information |
Disease Link
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| ZERO(Not Found): Sex chromosome anomalies | X-chromosome inactivation (XCI) [Sex chromosome anomalies] | ||||||
| Detailed Information |
Disease Link
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| Metabolite(s) with this epigenetic modification | |||||||
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| Metabolite Name: Valerate | |||||||
| Detailed Information |
Meta Info
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[1], [2] | |||||
| Description |
Valerate has been shown to hypermethylate MBNL3 CpG site in breast cancer cells.
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