1. Gene
  2. MXD3 - MAX dimerization protein 3 Gene

MXD3 - MAX dimerization protein 3 Gene

Homo sapiens

Also known as MYX; MAD3; BHLHC13

Gene ID: 83463 | Gene type: protein coding

About MXD3

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,305,499-177,312,752 (from NCBI)

This gene has 9 transcripts (splice variants), 173 orthologues and 4 paralogues. Ubiquitous expression in small intestine (RPKM 15.2), colon (RPKM 14.3) and 25 other tissues.

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.[provided by RefSeq, Dec 2008]

MXD3 Products(4)

mRNA Protein Name
NM_001142935.2 NP_001136407.1 max dimerization protein 3 isoform b
NM_001394986.1 NP_001381915.1 max dimerization protein 3 isoform a
NM_001394987.1 NP_001381916.1 max dimerization protein 3 isoform c
NM_031300.4 NP_112590.1 max dimerization protein 3 isoform a

MXD3 Protein Structure

HLH

HLH: Helix-loop-helix DNA-binding domain (59 - 110)

  • 0
  • 100
  • 206 a.a.
Protein Preferred Names Protein Names

max dimerization protein 3

Max-associated protein 3

Related Diseases

Diseases Alias
Atrichia With Papular Lesions

Papular Atrichia

APL

Congenital Atrichia

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus MXD3 VGNC VGNC:55224
Macaca mulatta MXD3 VGNC VGNC:84451
Canis familiaris MXD3 VGNC VGNC:51904
Mus musculus MXD3 MGD MGI:104987
Rattus norvegicus MXD3 RGD RGD:628624