TCF20 Summary

This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

TCF20 Details

Gene Symbol : TCF20

Gene Name : Transcription factor 20

Chromosome : CHR 22: 422,839,26-421,600,12

Locus : 22q13.3

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MKL1 Summary

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]

MKL1 Details

Gene Symbol : MKL1

Gene Name : Megakaryoblastic leukemia (translocation) 1

Chromosome : CHR 22: 406,367,18-404,102,80

Locus : 22q13.1-q13.2

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