SUV39H1 SUV39H1 histone lysine methyltransferase
Gene ID: 6839, updated on 16-Apr-2024Gene type: protein coding
Also known as: MG44; KMT1A; SUV39H; H3-K9-HMTase 1
- See all available tests in GTR for this gene
- Go to complete Gene record for SUV39H1
- Go to Variation Viewer for SUV39H1 variants
Summary
This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Genomic context
- Location:
- Xp11.23
- Sequence:
- Chromosome: X; NC_000023.11 (48695554..48709016)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SUV39H1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SUV39H1 @ LOVD
- Variation ViewerRelated Variants
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