VSX1 - visual system homeobox 1 Gene

Homo sapiens

Also known as PPD; KTCN; PPCD; RINX; KTCN1; PPCD1; CAASDS

Gene ID: 30813 | Gene type: protein coding

About VSX1

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:25,070,880-25,082,141 (from NCBI)

This gene has 7 transcripts (splice variants), 176 orthologues and is associated with 6 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

VSX1 Products(5)

mRNA	Protein	Name
NM_001256271.2	NP_001243200.1	visual system homeobox 1 isoform c
NM_001256272.2	NP_001243201.1	visual system homeobox 1 isoform d
NM_001378633.1	NP_001365562.1	visual system homeobox 1 isoform e
NM_014588.6	NP_055403.2	visual system homeobox 1 isoform a
NM_199425.3	NP_955457.1	visual system homeobox 1 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VSX1 Protein Structure

Homeobox

0
100
200
300
365 a.a.

Protein Preferred Names

Protein Names

visual system homeobox 1

homeodomain protein RINX

Related Diseases

Diseases

Alias

Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome

CAASDS

Keratoconus 1

KTCN1

Keratoconus, Type 1

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Keratoconus

Kc	Conical Cornea
Noninflammatory Corneal Thining	Bulging Cornea
Cornea Conical	Acquired Conus Of Cornea

Corneal Dystrophy

Irregular Astigmatism

Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea	Chandler Syndrome
CHED	Chandler'S Syndrome
Endothelial Corneal Dystrophy	Ched2
Maumenee Corneal Dystrophy	Corneal Dystrophy, Congenital Hereditary Endothelial
Dystrophy Of Corneal Endothelium	Corneal Endothelial Dystrophy 2
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly	Ched2, Formerly
Corneal Endothelial Dystrophy, Autosomal Recessive	Endothelial Dystrophy
Posterior Membrane Corneal Dystrophy	Corneal Endothelial Dystrophy Type 2
Congenital Hereditary Endothelial Dystrophy Of The Cornea	Congenital Hereditary Endothelial Dystrophy Type Ii
Autosomal Recessive Ched	Autosomal Recessive Congenital Hereditary Endothelial Dystrophy
Chedii	Congenital Hereditary Endothelial Dystrophy Type 2
Infantile Hereditary Endothelial Dystrophy	Congenital Hereditary Endothelial Corneal Dystrophy
Corneal Endothelial Dystrophy 2, Autosomal Recessive	Iridocorneal Endothelial Syndrome
Dystrophy, Corneal, Endothelial	Corneal Endothelial Dystrophy 1, Autosomal Dominant

Regular Astigmatism

Corneal Ectasia

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Corneal Dystrophy, Posterior Polymorphous, 3

Posterior Polymorphous Corneal Dystrophy 3	PPCD3
Dystrophy, Corneal, Posterior Polymorphous, Type 3

Corneal Dystrophy, Endothelial, X-Linked

X-Linked Endothelial Corneal Dystrophy	XECD
Endothelial Corneal Dystrophy, X-Linked

Gapo Syndrome

GAPOS	Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy
Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome	Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy

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

Osgood-Schlatter'S Disease

Osgood-Schlatter Disease	Juvenile Osteochondrosis Of Tibial Tubercle
Osteochondrosis	Osteochondritis Of Tibial Tubercle
Osteochondrosis Of Proximal Tibia	Aseptic Necrosis Of The Tibial Tubercle
Osteochondrosis Of The Tibial Tubercle	Osteochondritis Juvenilis

Corneal Dystrophy, Posterior Polymorphous, 2

Posterior Polymorphous Corneal Dystrophy 2	PPCD2
Corneal Dystrophy, Posterior Polymorphous 2	Corneal Dystrophy Polymorphous Posterior, 2
Dystrophy, Corneal, Posterior Polymorphous, Type 2

Corneal Degeneration

Degenerative Corneal Opacity

Corneal Disease

Corneal Diseases

Corneal Disorders

Cone-Rod Dystrophy 13

CORD13

Dystrophy, Cone-Rod, Type 13

Miles-Carpenter Syndrome

X-Linked Intellectual Disability, Miles-Carpenter Type	Mcs
Mental Retardation, X-Linked, Syndromic 4	Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches
Mrxs4	Miles-Carpenter X-Linked Mental Retardation Syndrome

Corneal Edema

Corneal Oedema

Infiltrate Of Cornea

Recurrent Corneal Erosion

Recurrent Erosion Of Cornea	Recurrent Erosion Syndrome
Corneal Erosion	Non-Traumatic Recurrent Erosion Of Cornea

Huntington Disease-Like 1

HDL1	Huntington-Like Neurodegenerative Disorder 1
Hln1	Huntington'S Disease-Like 1
Early-Onset Prion Disease With Prominent Psychiatric Features	Huntington-Like Neurodegenerative Disorder, Autosomal Dominant
Prion Disease, Early-Onset, With Prominent Psychiatric Features	Autosomal Dominant Huntington-Like Neurodegenerative Disorder
Huntington Disease-Like, Type 1

Granular Corneal Dystrophy

Granular Dystrophy Corneal	Corneal Dystrophies, Hereditary
Hereditary Corneal Dystrophy	Corneal Dystrophy Nos
Familial Hereditary Corneal Degeneration	Hereditary Corneal Opacity

Refractive Error

Refractive Errors

Epithelial And Subepithelial Dystrophy

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

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

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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-RS15718	VSX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	VSX1	VGNC	VGNC:108071
Bos taurus	VSX1	VGNC	VGNC:36845
Mus musculus	VSX1	MGD	MGI:1890816
Canis familiaris	VSX1	VGNC	VGNC:48312
Rattus norvegicus	VSX1	RGD	RGD:1305667
Felis catus	VSX1	VGNC	VGNC:66986