NXNL1 - nucleoredoxin like 1 Gene
Also Known as RDCVF; TXNL6
Species: Homo sapiens
About NXNL1
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 |
NXNL1 Protein Structure
Thioredoxin_8: Thioredoxin-like (32 - 132)
- 0
- 100
- 200
- 212 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nucleoredoxin-like protein 1 |
|
NXNL1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810327 | NXNL1 Antibody | WB, IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acquired Color Blindness |
|
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| Retinitis Pigmentosa |
|
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| Bardet-Biedl Syndrome |
|
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| Macular Degeneration, Age-Related, 1 |
|
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| Eye Degenerative Disease |
|
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| Cone Dystrophy |
|
|
| Leber Congenital Amaurosis 1 |
|
|
| Achromatopsia |
|
|
| Congenital Stationary Night Blindness |
|
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| Stargardt Disease |
|
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| Leber Plus Disease |
|
|
| Usher Syndrome |
|
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| Fundus Dystrophy |
|
|
| Cone-Rod Dystrophy 2 |
|
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| Eye Disease |
|
|
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 |