Property Summary

NCBI Gene PubMed Count 26
Grant Count 30
R01 Count 23
Funding $3,945,339.4
PubMed Score 71.89
PubTator Score 79.23

Knowledge Summary

Patent

No data available

Gene RIF (20)

PMID Text
26234941 Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness were described.
25802485 Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1.
23714322 A mutation was identified in NYX in 20 male patients with Congenital Stationary Night Blindness 1.
23406521 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.
23289809 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.
22735794 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).
21832182 A proteomic search for proteins associated with nyctalopin in the retina identified TRPM1 as the binding partner and nyctalopin additionally interacts with mGluR6 receptor.
20801516 Observational study of genetic testing. (HuGE Navigator)
18617546 The c.855delG deletion in NYX seems to be a common mutation associated with CSNB in the Flemish population from Belgium.
17392683 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MKGRGMLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAVSIDLD      1 - 70
RNGLRFLGERAFGTLPSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRYLHARTFAALSRLRRL     71 - 140
DLAACRLFSVPERLLAELPALRELAAFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRS    141 - 210
LSLQANRVRAVHAGAFGDCGVLEHLLLNDNLLAELPADAFRGLRRLRTLNLGGNALDRVARAWFADLAEL    211 - 280
ELLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPGFFLGRLFLFRNPWCCDCRLEWLRDW    281 - 350
MEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEELNLTTSSPGPSPEPAATTVSRFSSLLSKL    351 - 420
LAPRVPVEEAANTTGGLANASLSDSLSSRGVGGAGRQPWFLLASCLLPSVAQHVVFGLQMD             421 - 481
//

Text Mined References (25)

PMID Year Title
26234941 2015 Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
25802485 2015 NYX mutations in four families with high myopia with or without CSNB1.
23714322 2013 Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
23406521 2013 A novel missense mutation in the NYX gene associated with high myopia.
23289809 2013 Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation.
22735794 2012 Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
21832182 2011 TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
18617546 2009 A common NYX mutation in Flemish patients with X linked CSNB.
17392683 2007 Mutations in NYX of individuals with high myopia, but without night blindness.
More...