LongevityMap Gene
Gene details
- HGNC symbol
- MKL1
- Aliases
- MAL; BSAC; MRTF-A
- Common name
- megakaryoblastic leukemia (translocation) 1
- Description
- The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
- Cytogenetic Location
- 22q13.1-q13.2
- UCSC Genome Browser
- View 22q13.1-q13.2 on the UCSC genome browser
- OMIM
- 606078
- Ensembl
- ENSG00000196588
- UniProt/Swiss-Prot
- A4FUJ8_HUMAN
- Entrez Gene
- 57591
- UniGene
- 654688
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- CellAge
- This gene is present as MRTFA
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs5758008
- Reference