Gene: MXD3

Alternate names for this Gene: BHLHC13|MAD3|MYX

Gene Summary: This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.3

Description of this Gene: MAX dimerization protein 3

Type of Gene: protein-coding

rs111251222 in MXD3 gene and Body Height PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

rs13190036 in MXD3 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11949767 in MXD3 gene and Multiple Sclerosis PMID 17660530 2007 Risk alleles for multiple sclerosis identified by a genomewide study.

rs11949767 in MXD3 gene and Uric acid measurement (procedure) PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

rs11949767 in MXD3 gene and von Willebrand's factor (lab test) PMID 23381943 2013 Ischemic stroke is associated with the ABO locus: the EuroCLOT study.