DMBX1 - diencephalon/mesencephalon homeobox 1 Gene

Homo sapiens

Also known as Atx; MBX; OTX3; PAXB

Gene ID: 127343 | Gene type: protein coding

About DMBX1

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:46,489,836-46,516,216 (from NCBI)

This gene has 2 transcripts (splice variants), 270 orthologues and 50 paralogues. Low expression observed in reference dataset.

Summary

This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

DMBX1 Products(4)

mRNA	Protein	Name
NM_001387775.1	NP_001374704.1	diencephalon/mesencephalon homeobox protein 1 isoform a
NM_001387776.1	NP_001374705.1	diencephalon/mesencephalon homeobox protein 1 isoform b
NM_147192.4	NP_671725.1	diencephalon/mesencephalon homeobox protein 1 isoform b
NM_172225.2	NP_757379.1	diencephalon/mesencephalon homeobox protein 1 isoform a

DMBX1 Protein Structure

Homeobox

OAR

0
100
200
300
382 a.a.

Protein Preferred Names

Protein Names

diencephalon/mesencephalon homeobox protein 1

homeoprotein MBX

Related Diseases

Diseases

Alias

Farsightedness

Hypermetropia	Hyperopia
Far-Sightedness	Farsighted
Long-Sighted	Long-Sightedness

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Hypotonia

Pulmonary Aspergilloma

Ritscher-Schinzel Syndrome 1

3c Syndrome	Craniocerebellocardiac Dysplasia
RTSC1	Dandy-Walker-Like Malformation With Atrioventricular Septal Defect
Dandy-Walker Like Malformation With Atrioventricular Septal Defect	Cranio-Cerebello-Cardiac Dysplasia
Dandy-Walker-Like Malformation With Asd	Ritscher Schinzel Syndrome
Ritscher-Schinzel Cranio-Cerebello-Cardiac Syndrome	Ritscher-Schinzel Syndrome
3c

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03821	DMBX1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DMBX1	VGNC	VGNC:71861
Bos taurus	DMBX1	VGNC	VGNC:28104
Mus musculus	DMBX1	MGD	MGI:2153518
Felis catus	DMBX1	VGNC	VGNC:61525
Canis familiaris	DMBX1	VGNC	VGNC:39997
Rattus norvegicus	DMBX1	RGD	RGD:1308265

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