NXNL1 - nucleoredoxin like 1 Gene

Also Known as RDCVF; TXNL6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 115861

About NXNL1

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,455,425-17,460,926 (from NCBI)

This gene has 1 transcript (splice variant), 218 orthologues and 2 paralogues. Biased expression in fat (RPKM 1.0) and adrenal (RPKM 0.2).

Summary

Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]

NXNL1 Products (1)

mRNA Protein Name
NM_138454.2 NP_612463.1 nucleoredoxin-like protein 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25957687 GOA
Biological Process GO Annotation Evidence References Source
involved in photoreceptor cell maintenance IMP
IMP: Inferred from mutant phenotype
25957687 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

NXNL1 Protein Structure

Thioredoxin_8

Thioredoxin_8: Thioredoxin-like (32 - 132)

  • 0
  • 100
  • 200
  • 212 a.a.
Protein Preferred Names Protein Names

nucleoredoxin-like protein 1

  • rod-derived cone viability factor

NXNL1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810327 NXNL1 Antibody WB, IHC-P Human

Related Diseases

Diseases Alias
Acquired Color Blindness
  • Acquired Color Vision Deficiencies

  • Acquired Color Vision Deficiency

  • Acquired Colour Blindness

  • Acquired Colour Vision Deficiencies

  • Acquired Colour Vision Deficiency

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

Bardet-Biedl Syndrome
  • Bbs

  • Biedl-Bardet Syndrome

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
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

Achromatopsia
  • Achm

  • Rod Monochromatism

  • Total Color Blindness

  • Rod Monochromacy

  • Monochromatism

  • Achromatism

  • Complete Or Incomplete Color Blindness

  • Pingelapese Blindness

  • Achromatopsia 1

  • Achromatopsia 2

  • Achromatopsia 3

Congenital Stationary Night Blindness
  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital

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

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

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

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

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

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

Orthologs Information

Species Symbol Source ID
Mus musculus NXNL1 MGD MGI:1924446
Rattus norvegicus NXNL1 RGD RGD:1308296
Canis familiaris NXNL1 VGNC VGNC:44074
Bos taurus NXNL1 VGNC VGNC:32377
Felis catus NXNL1 VGNC VGNC:63936
Others NXNL1 NCBI