RAX - retina and anterior neural fold homeobox Gene

Homo sapiens

Also known as RX; RAX1; MCOP3; MCOPS16

Gene ID: 30062 | Gene type: protein coding

About RAX

Cytogenetic location: 18q21.32 Genomic coordinates (GRCh38): 18:59,267,038-59,273,454 (from NCBI)

This gene has 4 transcripts (splice variants), 98 orthologues, 50 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a homeobox-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]

RAX Products(1)

mRNA	Protein	Name
NM_013435.3	NP_038463.2	retinal homeobox protein Rx

Protein Preferred Names

Protein Names

retinal homeobox protein Rx

retina and anterior neural fold homeobox protein

Related Diseases

Diseases

Alias

Microphthalmia, Isolated 3

Isolated Microphthalmia 3	MCOP3
Microphthalmia, Isolated, 3	Isolated Clinical Anophthalmia
Microphthalmia, Isolated, Type 3

Colobomatous Microphthalmia

Anophthalmia-Microphthalmia Syndrome	Mac
Microphthalmia With Colobomatous Cyst	Microphthalmia-Anophthalmia-Coloboma Syndrome
Microphthalmia-Anophthalmia-Coloboma	Microphthalmia And Mental Deficiency

Nanophthalmos

Nanophthalmia

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

Microphthalmia, Syndromic 8

MCOPS8	Mmep Syndrome
Mmep	Syndromic Microphthalmia Type 8
Viljoen-Smart Syndrome	Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism
Syndromic Microphthalmia 8	Microcephaly-Microphthalmia-Ectrodactyly Of Lower Limbs-Prognathism Syndrome
Microphthalmia Syndromic 8	Microcephaly Microphthalmia Ectrodactyly Of Lower Limbs And Prognathism
Viljoen Smart Syndrome	Microphthalmia, Syndromic, 8
Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs And Prognathism

Microphthalmia, Syndromic 10

MCOPS10	Moba
Microphthalmia And Brain Atrophy	Syndromic Microphthalmia 10
Microphthalmia-Brain Atrophy Syndrome	Microphthalmia Syndromic 10
Moba Syndrome	Syndromic Microphthalmia Type 10

Microphthalmia, Syndromic 6

MCOPS6	Microphthalmia And Pituitary Anomalies
Microphthalmia With Brain And Digit Anomalies	Microphthalmia With Brain And Digit Developmental Anomalies
Syndromic Microphthalmia Type 6	Syndromic Microphthalmia 6
Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia	Bakrania-Ragge Syndrome
Orofacial Cleft 11	Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia
Microphthalmia Syndromic 6	Microphthalmia, Syndromic, 6
Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia	Microphthalmia Syndromic, Type 6

Microphthalmia, Isolated 2

Isolated Microphthalmia 2	MCOP2
Anophthalmia, Clinical, Isolated	Microphthalmia, Isolated, 2
Isolated Clinical Anophthalmia	Microphthalmia, Isolated, Type 2

Alveolar Periostitis

Dry Socket	Alveolitis Of Jaw
Dry Tooth Socket	Alveolar Pyorrhea
Alveolar Osteitis	Alveolitis Sicca Dolorosa
Alveolodental Periostitis

Isolated Microphthalmia

Corneal Staphyloma

Staphyloma Of Cornea

Congenital Staphyloma

Orbital Cyst

Gillespie Syndrome

GLSP	Aniridia, Cerebellar Ataxia And Mental Deficiency
Aniridia Cerebellar Ataxia Mental Deficiency	Aniridia, Cerebellar Ataxia, And Mental Retardation
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia-Cerebellar Ataxia-Intellectual Disability
Aniridia-Cerebellar Ataxia-Mental Deficiency	Partial Aniridia-Cerebellar Ataxia-Oligophrenia
Aniridia, Cerebellar Ataxia, And Intellectual Disability

Sclerocornea

Isolated Congenital Sclerocornea

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

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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11711	RAX Human Pre-designed siRNA Set A		/	Unkown
HY-RS11712	RAX2 Human Pre-designed siRNA Set A		/	Unkown
HY-W130236	Methylene Violet 3RAX	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RAX	MGD	MGI:109632
Bos taurus	RAX	VGNC	VGNC:56370
Rattus norvegicus	RAX	RGD	RGD:620371
Macaca mulatta	RAX	VGNC	VGNC:82218
Felis catus	RAX	VGNC	VGNC:80477
Canis familiaris	RAX	VGNC	VGNC:53758
Macaca fascicularis	RAX	NCBI
Others	RAX	NCBI

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