Aliases for MXD1 Gene
External Ids for MXD1 Gene
Previous HGNC Symbols for MXD1 Gene
Previous GeneCards Identifiers for MXD1 Gene
This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
GeneCards Summary for MXD1 Gene
MXD1 (MAX Dimerization Protein 1) is a Protein Coding gene. Diseases associated with MXD1 include Williams-Beuren Syndrome. Among its related pathways are Preimplantation Embryo and DAG and IP3 signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein dimerization activity. An important paralog of this gene is MXI1.
UniProtKB/Swiss-Prot Summary for MXD1 Gene
Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MAD thus antagonizes MYC transcriptional activity by competing for MAX.