Protein 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]
- ENST00000342595
- ENSP00000340328
- ENSG00000188937
- ENST00000378220
- ENSP00000367465
- CLRP
- CLRP
- NBM1
- CSNB1
- CSNB4
- CSNB1A
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
cell type or tissue | 0.66 | ||
protein domain | 0.58 | ||
tissue | 0.55 | ||
cell line | 0.44 | ||
biological term | 0.42 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 130.91 (req: < 5)
Gene RIFs: 23 (req: <= 3)
Antibodies: 91 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 130.91 (req: >= 5)
Gene RIFs: 23 (req: > 3)
Antibodies: 91 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 2
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0