NYX Antibody

1. Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness were described. PMID: 26234941
2. Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. PMID: 25802485
3. Loss of ERG amplitude and apparent ON-pathway dysfunction at high temporal frequencies distinguish this patient with a Trp237Ter NYX mutation from those with other previously reported NYX mutations. PMID: 23289809
4. A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. PMID: 23406521
5. A mutation was identified in NYX in 20 male patients with Congenital Stationary Night Blindness 1. PMID: 23714322
6. The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB). PMID: 22735794
7. A proteomic search for proteins associated with nyctalopin in the retina identified TRPM1 as the binding partner and nyctalopin additionally interacts with mGluR6 receptor. PMID: 21832182
8. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. PMID: 12397430
9. Seven in-frame deletion, splicing, missense, nonsense, and frameshift mutations were identified segregating with X-linked congenital stationary night blindness in the NYX gene. PMID: 12552565
10. Human and mouse nyctalopin are membrane-bound extracellular proteins and are functionally conserved. PMID: 14507859
11. The results implicated a specific on-pathway signaling deficiency in CSNB1-NYX males with no evidence of off-pathway involvement. Likewise, rapid-on/off ramping stimuli also indicated that the functional deficit was localized to the on pathway. PMID: 15331616
12. In a pool of eight diagnosed XLCSNB (X-linked congenital stationary night blindness) patients, five showed a sequence variation in the CACNA1F and two in the NYX gene. PMID: 15761389
13. Results support a role for nyctalopin in synaptic transmission and/or synapse formation at ribbon synapses in the retina. PMID: 16553780
14. X-linked congenital night blindness mutations are reported in Chinese males in two families. PMID: 16670814
15. Mutations in NYX may cause high myopia without congenital stationary night blindness. PMID: 17392683
16. The c.855delG deletion in NYX seems to be a common mutation associated with CSNB in the Flemish population from Belgium. PMID: 18617546
17. The nob (no b-wave) mouse model of CSNB1 (complete form of human X-linked congenital stationary night blindness) involves an 85-bp deletion in the nyx gene. PMID: 12506099
18. Novel mutations of NYX were identified in two Chinese families with CSNB1 and myopia. PMID: 16670814

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HGNC: 8082

OMIM: 300278

KEGG: hsa:60506

STRING: 9606.ENSP00000340328

UniGene: Hs.302019