NRL - neural retina leucine zipper Gene

Homo sapiens

Also known as RP27; D14S46E; NRL-MAF

Gene ID: 4901 | Gene type: protein coding

About NRL

Cytogenetic location: 14q11.2-q12 Genomic coordinates (GRCh38): 14:24,078,662-24,114,949 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 175 orthologues, 6 paralogues and is associated with 4 phenotypes. Ubiquitous expression in duodenum (RPKM 1.2), small intestine (RPKM 1.0) and 25 other tissues.

Summary

This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]

NRL Products(4)

mRNA	Protein	Name
NM_001354768.3	NP_001341697.1	neural retina-specific leucine zipper protein isoform 1
NM_001354769.1	NP_001341698.1	neural retina-specific leucine zipper protein isoform 1
NM_001354770.2	NP_001341699.1	neural retina-specific leucine zipper protein isoform 2
NM_006177.5	NP_006168.1	neural retina-specific leucine zipper protein isoform 1

NRL Protein Structure

Maf_N

bZIP_Maf

0
100
200
237 a.a.

Protein Preferred Names

Protein Names

neural retina-specific leucine zipper protein

neural retinal-specific leucine zipper

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 27

RP27	Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
Retinal Degeneration Autosomal Recessive Clumped Pigment Type	RDCP
Clumped Pigmentary Retinal Degeneration	Retinitis Pigmentosa, Type 27

Enhanced S-Cone Syndrome

Goldmann-Favre Syndrome	ESCS
Favre Hyaloideoretinal Degeneration	Retinoschisis With Early Hemeralopia
Retinoschisis With Early Nyctalopia	Enhanced S Cone Syndrome
S-Cone Syndrome, Enhanced

Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial

Pck2 Deficiency	Phosphoenolpyruvate Carboxykinase 2 Deficiency
PCKDM	Pepck2 Deficiency
Pepck Deficiency, Mitochondrial	Pepck 2 Deficiency
Pepck2	Mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency
M-PEPCKD

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

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

Retinal Degeneration

Degeneration Of Retina

Retinitis

Jugular Foramen Meningioma

Meningioma Of The Jugular Foramen

Kunjin Encephalitis

Clivus Meningioma

Meningioma Of The Clivus

Macular Degeneration, Age-Related, 7

Age Related Macular Degeneration 7	ARMD7
Macular Degeneration, Age-Related, Neovascular Type	Susceptibility To Neovascular Type Of Age-Related Macular Degeneration
Macular Degeneration, Age-Related, Type 7

Night Blindness

Nyctalopia

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Pineal Region Meningioma

Pineal Meningioma

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

Retinitis Pigmentosa 9

RP9	Retinitis Pigmentosa-9
Retinitis Pigmentosa, Type 9

Retinitis Pigmentosa 1

RP1	Retinitis Pigmentosa-1
Retinitis Pigmentosa, Type 1

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

Latex Allergy

Macular Degeneration, Age-Related, 1

Macular Degeneration	Age-Related Macular Degeneration
Macular Degeneration, Age-Related	Age Related Macular Degeneration
Age Related Macular Degeneration 1	ARMD1
Senile Macular Degeneration	Maculopathy, Age-Related, 1
Macular Degeneration, Age-Related, Reduced Risk Of	Age Related Maculopathy 1
Age Related Maculopathies	Age Related Maculopathy
Senile Macular Retinal Degeneration	Macular Degeneration Of Retina
Age-Related Maculopathy	Amd
Armd	Age-Related Maculopathy, Susceptibility To
Maculopathy Age-Related	Macular Degeneration, Age-Related, 1, Susceptibility To
Maculopathy, Age-Related	Macular Degeneration, Age-Related, Type 1
Macular Degeneration, Age-Related, 2

Eye Degenerative Disease

Campylobacteriosis

Campylobacter Infections	Campylobacter Infection
Enteric Campylobacteriosis

Multidrug-Resistant Tuberculosis

Tuberculosis, Multidrug-Resistant

Tuberculosis Multidrug-Resistant

Achromatopsia

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

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina	Degeneration Of Macula Or Posterior Pole
Macular Degeneration Nos	Degenerative Disorder Of Macula
Drusen Macular Degeneration	Posterior Pole Macular Degeneration Of Eye
Macular Eye Degeneration	Macular Degeneration Of Retina, Unspecified
Pseudohole Degeneration Of Macula Of Retina

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

Leber Congenital Amaurosis 1

LCA1	Amaurosis Congenita Of Leber I
Lca	Retinal Blindness, Congenital
Crb	Leber Congenital Amaurosis Type I
Leber Congenital Amaurosis, Type 1	Amaurosis Congenita Of Leber, Type 1

Congenital Stationary Night Blindness

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

Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy	Ornithine Aminotransferase Deficiency
HOGA	Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
Oat Deficiency	Okt Deficiency
Hyperornithinemia	Ornithine Keto Acid Aminotransferase Deficiency
Ornithine-Delta-Aminotransferase Deficiency	Gyrate Atrophy Of The Choroid And Retina
GACR	Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia
Gyrate Atrophy Of The Retina	Ornithinemia With Gyrate Atrophy
Ornithinemia	Fuchs Atrophia Gyrata Chorioideae Et Retinae
Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome	Gyrate Atrophy Of The Choroid And/Or Retina
Girate Atrophy Of The Retina	Ornithine Ketoacid Aminotransferase Deficiency
Atrophy, Gyrate, Of Choroid And Retina

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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-RS09575	NRL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	NRL	VGNC	VGNC:75530
Canis familiaris	NRL	VGNC	VGNC:43972
Felis catus	NRL	VGNC	VGNC:80905
Bos taurus	NRL	VGNC	VGNC:55129
Rattus norvegicus	NRL	RGD	RGD:1305197
Mus musculus	NRL	MGD	MGI:102567
Others	NRL	NCBI