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Rabbit Anti-Nyctalopin antibody
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]
Subcellular Location:
Secreted > extracellular space > extracellular matrix.
Tissue Specificity:
Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer.
DISEASE:
Defects in NYX are the cause of congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]; also called X-linked congenital stationary night blindness (XLCSNB). Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. CSNB1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity.
Similarity:
Belongs to the small leucine-rich proteoglycan (SLRP) family.
SLRP class IV subfamily.
Contains 11 LRR (leucine-rich) repeats.
Contains 1 LRRCT domain.
Contains 1 LRRNT domain.
SWISS:
Q9GZU5
Gene ID:
60506
Database links:
Entrez Gene: 60506 Human
Omim: 300278 Human
SwissProt: Q9GZU5 Human
Unigene: 302019 Human
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