DOT1L Chromosome 19
DOT1 like histone lysine methyltransferase
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What This Gene Does
The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Histone lysine methyltransferases|7BS protein lysine methyltransferases"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000104885
Associated Conditions (1)
Inborn genetic diseases
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1400104618 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2024330843 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |