DOT1L gene

DOT1 like histone lysine methyltransferase

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The information on this page was automatically extracted from online scientific databases.

Normal Function

From NCBI Gene:

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]

Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones. Binds to DNA.

Health Conditions Related to Genetic Changes

Covered on Genetics Home Reference:

Osteoarthritis

Chromosomal Location

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3

Molecular Location: base pairs 2,163,963 to 2,232,578 on chromosome 19 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 19p13.3, which is the short (p) arm of chromosome 19 at position 13.3

Credit: Genome Decoration Page/NCBI

Other Names for This Gene

DOT1
KMT4

Additional Information & Resources

Genetic Testing Registry (1 link)

GTR: Genetic tests for DOT1L

OMIM (1 link)

OMIM: DOT1-LIKE

Research Resources (6 links)

Published: April 25, 2018

The resources on this site should not be used as a substitute for professional medical care or advice. Users with questions about a personal health condition should consult with a qualified healthcare professional.