| Symbol
| DOT1L
| contributors: mct/pgu - updated : 21-11-2023
|
| HGNC name
| DOT1-like, histone H3 methyltransferase (S. cerevisiae)
|
| HGNC id
| 24948
|
| corresponding disease(s)
|
DDFHID
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --low
|
|
in idiopathic DCM (dilated cardiomyopathy) patient samples compared with normal controls  | | constitutional
|
|
|
| loss of function
| |
DOT1L-deficient cells also showed abnormal mitotic spindle formation and centrosome number, suggesting that DOT1L deficiency leads to chromosomal missegregation | | constitutional
|
|
| --low
|
| |
in osteoarthritic joints | |
Variant & Polymorphism
| 
| |
| Candidate gene
| may provide a potential target for therapeutic intervention in MLL-AF10-mediated leukemogenesis |
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| cancer | hemopathy | | |
| may serve as a potential therapeutic target for the treatment of leukemia caused by MLL translocations | | cancer | digestive | colon | |
| may present an attractive candidate for drug targeting in colorectal cancer. | | cancer | hemopathy | | |
| disruption of interaction between DOT1L and MLLT3/MLLT1 is a promising therapeutic strategy with potentially fewer adverse effects than enzymatic inhibition of DOT1L for KMT2A fusion protein-associated leukemia | | osteoarticular | | | |
| local treatment with a selective hypoxia mimetic in the joint restores DOT1L function and could be an attractive therapeutic strategy for osteoarthritis | | cancer | hemopathy | | |
| is also an important drug target for treatment of mixed lineage leukemia (MLL)-rearranged leukemia where aberrant transcriptional activation is promoted by DOT1L mislocalisation |
| | |
|
| mouse germline Dot1L deletion causes embryonic lethality and defects in heart and yolk sac |