NYX - nyctalopin Gene

Homo sapiens

Also known as CLRP; NBM1; CSNB1; CSNB4; CSNB1A

Gene ID: 60506 | Gene type: protein coding

About NYX

Cytogenetic location: Xp11.4 Genomic coordinates (GRCh38): X:41,447,343-41,475,652 (from NCBI)

This gene has 3 transcripts (splice variants), 180 orthologues, 22 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008]

NYX Products(2)

mRNA	Protein	Name
NM_001378477.3	NP_001365406.2	nyctalopin precursor
NM_022567.3	NP_072089.2	nyctalopin precursor

NYX Protein Structure

LRRNT

LRR_8

0
100
200
300
400
481 a.a.

Protein Preferred Names

Protein Names

nyctalopin

leucine-rich repeat protein

Related Diseases

Diseases

Alias

Night Blindness, Congenital Stationary, Type 1a

Congenital Stationary Night Blindness 1a	CSNB1A
Hemeralopia-Myopia	Myopia-Night Blindness
Night Blindness, Congenital Stationary , 1a, X-Linked	Congenital Stationary Night Blindness With Myopia
Csnb, Complete, X-Linked	Night Blindness, Congenital Stationary, With Myopia
Nbm1	Complete Csnb X-Linked
Congenital Stationary Night Blindness 1a X-Linked	Nbmi
Night Blindness, Congenital Stationary, 1a	Complete X-Linked Csnb
Nyctalopia	Xlcsnb
X-Linked Congenital Stationary Night Blindness	Blindness, Night, Stationary, Congenital, Type 1a
Night Blindness	X-Linked Csnb
Night Blindness, Congenital Stationary, Type 2a

Congenital Stationary Night Blindness

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

Night Blindness, Congenital Stationary, Type 1e

CSNB1E	Congenital Stationary Night Blindness 1e
Csnb, Complete, Autosomal Recessive	Night Blindness, Congenital Stationary , 1e, Autosomal Recessive
Congenital Stationary Night Blindness 1e Autosomal Recessive	Night Blindness, Congenital Stationary, 1e
Complete Autosomal Recessive Csnb	Csnb1
Night Blindness, Congenital Stationary, Type 1	Blindness, Night, Stationary, Congenital, Type 1e

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Night Blindness

Nyctalopia

X-Linked Congenital Stationary Night Blindness

X-Linked Csnb	Congenital Stationary Night Blindness With Myopia
Hemeralopia-Myopia	Myopia-Night Blindness
Xlcsnb	Night Blindness, Congenital Stationary, Type 2a
Night Blindness, Congenital Stationary, Type 1a

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Inherited Retinal Disorder

Retinal Dystrophy

Night Blindness, Congenital Stationary, Type 2a

Congenital Stationary Night Blindness 2a	CSNB2A
Csnb2	Csnb, Incomplete, X-Linked
Night Blindness, Congenital Stationary, Type 2	Night Blindness, Congenital Stationary , 2a, X-Linked
Congenital Stationary Night Blindness 2a X-Linked	Night Blindness, Congenital Stationary, 2a
Congenital Stationary Night Blindness Type 2	Incomplete X-Linked Csnb
Night Blindness, Congenital Stationary, X-Linked, Type 2a	Blindness, Night, Stationary, Congenital, Type 2a

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Retinoschisis 1, X-Linked, Juvenile

Retinoschisis	X-Linked Retinoschisis
X-Linked Juvenile Retinoschisis	RS1
XLRS1	X-Linked Juvenile Retinoschisis 1
Xlrs	Retinoschisis, X-Linked
Rs	Congenital X-Linked Retinoschisis
Degenerative Retinoschisis	Juvenile Retinoschisis
Xjr	Retinoschisis Juvenile X-Linked 1
Retinoschisis, Juvenile, X-Linked	Retinoschisis, Degenerative

Oguchi Disease

Stationary Night Blindness, Oguchi Type	Congenital Stationary Night Blindness, Oguchi Type
Oguchi Syndrome	Oguchis Disease

Cone-Rod Dystrophy, X-Linked, 3

CORDX3	X-Linked Cone-Rod Dystrophy 3
Cone-Rod Dystrophy X-Linked 3	Cone-Rod Dystrophy, X-Linked 3
Dystrophy, Cone-Rod, X-Linked, Type 3

Night Blindness, Congenital Stationary, Type 1b

Congenital Stationary Night Blindness 1b	CSNB1B
Night Blindness, Congenital Stationary, Complete, Autosomal Recessive	Csnb, Complete, Autosomal Recessive
Night Blindness, Congenital Stationary , 1b, Autosomal Recessive	Autosomal Recessive Complete Congenital Stationary Night Blindness
Congenital Stationary Night Blindness 1b Autosomal Recessive	Night Blindness, Congenital Stationary, 1b
Complete Autosomal Recessive Csnb	Complete Congenital Stationary Night Blindness Autosomal Recessive
Blindness, Night, Stationary, Congenital, Type 1b

Night Blindness, Congenital Stationary, Type 1c

Congenital Stationary Night Blindness 1c	CSNB1C
Csnb, Complete, Autosomal Recessive	Night Blindness, Congenital Stationary , 1c, Autosomal Recessive
Congenital Stationary Night Blindness 1c Autosomal Recessive	Night Blindness, Congenital Stationary, 1c
Complete Autosomal Recessive Csnb	Night Blindness, Congenital Stationary, Type Ic
Blindness, Night, Stationary, Congenital, Type 1c

Aland Island Eye Disease

AIED	Forsius-Eriksson Type Ocular Albinism
Forsius-Eriksson Syndrome	Autoimmune Inner Ear Disease
Forsius Eriksson Type Ocular Albinism	Aland Islands Eye Disease
Aaland Island Eye Disease	Ocular Albinism, Type Ii

Osteogenesis Imperfecta, Type Xiv

Osteogenesis Imperfecta Type 14	OI14
Osteogenesis Imperfecta Type Xiv	Oi, Type Xiv
Osteogenesis Imperfecta 14	Oi Type Xiv
Oi-Xiv

Refractive Amblyopia

Ametropic Amblyopia

Refractive Error

Refractive Errors

Achromatopsia 3

ACHM3	Pingelapese Blindness
Total Colorblindness With Myopia	Achromatopsia With Myopia
Achm1	Rmch1
Rod Monochromacy 1	Rod Monochromatism 1
Achm1, Formerly	Rod Monochromatism 1, Formerly
Rod Monochromacy 1, Formerly	Rmch1, Formerly
Achromatopsia-3	Achromatopsia, Type 3

Cone-Rod Dystrophy 13

CORD13

Dystrophy, Cone-Rod, Type 13

Blue Cone Monochromacy

Blue Cone Monochromatism	BCM
Cbbm	Color Blindness Blue Mono Cone Monochromatic Type
Cone Dystrophy 5, X-Linked	Colorblindness, Blue-Mono-Cone-Monochromatic Type
Achromatopsia Incomplete X-Linked	Incomplete Achromatopsia X-Linked
X-Chromosome-Linked Achromatopsia	X-Linked Achromatopsia Incomplete
Atypical X-Linked Achromatopsia	Color Blindness, Blue Monocone Monochromatic Type
S Cone Monochromacy	S Cone Monochromatism
X-Linked Incomplete Achromatopsia	Colorblindness Blue-Mono-Cone-Monochromatic Type
Cone Dystrophy 5	COD5
Cone Dystrophy 5 X-Linked	Monochromacy, Blue Cone
Cone Monochromatism	Achromatopsia Incomplete, X-Linked

Glycerol Kinase Deficiency

Hyperglycerolemia	GKD
Gk Deficiency	Gk1 Deficiency
Deficiency Of Glycerol Kinase	Isolated Glycerol Kinase Deficiency
Glycerol Kinase Deficiency, Adult Form	Glycerol Kinase Deficiency, Juvenile Form
Deficiency, Glycerol Kinase

Stickler Syndrome

Arthroophthalmopathy	Hereditary Arthro-Ophthalmo-Dystrophy
Hereditary Arthro-Ophthalmopathy	Stickler Dysplasia
Hereditary Progressive Arthroophthalmopathy	Stickler Syndrome, Type 1

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Fundus Albipunctatus

Retinitis Punctata Albescens	Pigmentary Retinal Dystrophy
RPA	Albipunctate Retinal Dystrophy
Lauber'S Disease	FALBI
Fa

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

Norrie Disease

Atrophia Bulborum Hereditaria	Episkopi Blindness
Pseudoglioma	ND
Norrie-Warburg Disease	Anderson-Warburg Syndrome
Fetal Iritis Syndrome	Norrie Syndrome
Norrie-Warburg Syndrome	Ndp
Congenital Progressive Oculo-Acoustico-Cerebral Degeneration	Norrie'S Disease
Oligophrenia Microphthalmus	Pseudoglioma Congenita
Whitnall-Norman Syndrome

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy	Fevr
Criswick-Schepens Syndrome	Exudative Vitreoretinopathy, Familial
Vitreoretinopathy, Exudative )	Exudative Vitreoretinopathy 1

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

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

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

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

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-135741	NYX-2925	Modulator	98.77%	Phase 2

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-156626	Nevadistinel	Modulator	/	Unkown
HY-156634	Risevistinel	Modulator	/	Unkown
HY-RS09724	NYX Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NYX	VGNC	VGNC:44084
Macaca mulatta	NYX	VGNC	VGNC:75569
Rattus norvegicus	NYX	RGD	RGD:1561300
Mus musculus	NYX	MGD	MGI:2448607
Bos taurus	NYX	VGNC	VGNC:32388