Species Human Entrez 57591 | Human Mouse Ensembl ENSG00000196588 | |
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Aliases MKL1, BSAC, MAL, MRTF-A, megakaryoblastic leukemia (translocation) 1 External IDs MGI: 2384495 HomoloGene: 32487 GeneCards: MKL1 | ||
MKL/megakaryoblastic leukemia 1 is a protein that in humans is encoded by the MKL1 gene.
Contents
Function
The protein encoded by this gene interacts with the transcription factor serum response factor, a key regulator of smooth muscle cell differentiation. It is closely related to MKL2 and myocardin. The encoded protein can shuttle between the cytoplasm and the nucleus, and may help this way transduce signals from the cytoskeleton to the nucleus.
Clinical significance
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.
References
MKL1 Wikipedia(Text) CC BY-SA