MXD1 - MAX dimerization protein 1 Gene

Homo sapiens

Also known as MAD; MAD1; BHLHC58

Gene ID: 4084 | Gene type: protein coding

About MXD1

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:69,915,109-69,942,945 (from NCBI)

This gene has 6 transcripts (splice variants), 203 orthologues and 4 paralogues. Broad expression in bone marrow (RPKM 58.4), esophagus (RPKM 54.2) and 16 other tissues.

Summary

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]

MXD1 Products(3)

mRNA	Protein	Name
NM_001202513.2	NP_001189442.1	max dimerization protein 1 isoform 2
NM_001202514.2	NP_001189443.1	max dimerization protein 1 isoform 3
NM_002357.4	NP_002348.1	max dimerization protein 1 isoform 1

MXD1 Protein Structure

HLH

0
100
200
221 a.a.

Protein Preferred Names

Protein Names

max dimerization protein 1

MAX-binding protein

Related Diseases

Diseases

Alias

Bladder Sarcoma

Sarcoma Of Bladder

Sarcoma Of The Urinary Bladder

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08861	MXD1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MXD1	VGNC	VGNC:31771
Canis familiaris	MXD1	VGNC	VGNC:43513
Felis catus	MXD1	VGNC	VGNC:81126
Macaca mulatta	MXD1	VGNC	VGNC:103836
Mus musculus	MXD1	MGD	MGI:96908
Rattus norvegicus	MXD1	RGD	RGD:1564525