MRTFA gene

From NCBI Gene:

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]

From UniProt:

From NCBI Gene:

• IMMUNODEFICIENCY 66

From UniProt:

A chromosomal aberration involving MRTFA may be a cause of acute megakaryoblastic leukemia. Translocation t(1;22)(p13;q13) with RBM15 (PubMed:11431691, PubMed:11344311). Although both reciprocal fusion transcripts are detected in acute megakaryoblastic leukemia (AMKL, FAB-M7), the RBM15-MRTFA chimeric protein has all the putative functional domains encoded by each gene and is the candidate oncogene (PubMed:11431691, PubMed:11344311).

Cytogenetic Location: 22q13.1-q13.2, which is the long (q) arm of chromosome 22 between positions 13.1 and 13.2

Molecular Location: base pairs 40,410,289 to 40,636,719 on chromosome 22 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

• BSAC
• MAL
• MKL
• MKL1
• MRTF-A