HMX1 - H6 family homeobox 1 Gene

Homo sapiens

Also known as H6; NKX5-3

Gene ID: 3166 | Gene type: protein coding

About HMX1

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:8,846,076-8,871,839 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 188 orthologues, 3 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]

HMX1 Products(2)

mRNA	Protein	Name
NM_001306142.2	NP_001293071.1	homeobox protein HMX1 isoform 2
NM_018942.3	NP_061815.2	homeobox protein HMX1 isoform 1

HMX1 Protein Structure

Homeobox

0
100
200
300
348 a.a.

Protein Preferred Names

Protein Names

homeobox protein HMX1

H6 homeodomain protein

Related Diseases

Diseases

Alias

Oculoauricular Syndrome

OCACS	Schorderet-Munier-Franceschetti Syndrome
Microphthalmia, Microcornea, Anterior Segment Dysgenesis, Cataract, Ocular Coloboma, Retinal Pigment Epithelium Abnormalities, Rod-Cone Dystrophy, And Anomalies Of The External Ear	Oculoauricular Syndrome, Schorderet Type
Oculo-Auricular Syndrome

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Cleft Palate, Cardiac Defects, And Mental Retardation

Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies	CPCMR
Cleft Palate, Cardiac Defects, And Intellectual Disabillity	Cleft Palate, Cardiac Defects, And Intellectual Disability
Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Entropion

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

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-RS06252	HMX1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HMX1	RGD	RGD:1304928
Bos taurus	HMX1	VGNC	VGNC:29887
Mus musculus	HMX1	MGD	MGI:107178
Macaca mulatta	HMX1	VGNC	VGNC:73490
Canis familiaris	HMX1	VGNC	VGNC:41721