nyctalopin (NYX, CLRP)
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Structure
- belongs to the small leucine-rich proteoglycan family, class IV subfamily
- contains 11 LRR repeates (leucine-rich repeats)
Compartment
secreted protein, extracellular matrix
Expression
- expressed in kidney & retina
- low levels in brain, testis, muscle
- within the retina, expressed in inner segment of photoreceptors, outer & inner nuclear layers & the ganglion cell layer
Pathology
- defects in NYX are the cause of congenital stationary night blindness type 1
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9GZU5.html
- ↑ Mutations of the NYX gene Retina International's Scientific Newsletter http://www.retina-international.com/sci-news/nyxmut.htm