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NCBI Gene PubMed Count 26
PubMed Score 71.89
PubTator Score 79.23

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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)
17392683 Mutations in NYX may cause high myopia without congenital stationary night blindness.
16670814 X-linked congenital night blindness mutations are reported in Chinese males in two families.
16670814 Novel mutations of NYX were identified in two Chinese families with CSNB1 and myopia.
16553780 Results support a role for nyctalopin in synaptic transmission and/or synapse formation at ribbon synapses in the retina.
15761389 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.
15331616 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.
14507859 Human and mouse nyctalopin are membrane-bound extracellular proteins and are functionally conserved.
12552565 Seven in-frame deletion, splicing, missense, nonsense, and frameshift mutations were identified segregating with X-linked congenital stationary night blindness in the NYX gene.
12506099 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.
12397430 Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.

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.
16670814 2006 CSNB1 in Chinese families associated with novel mutations in NYX.
16553780 2006 Localization of nyctalopin in the mammalian retina.
15772651 2005 The DNA sequence of the human X chromosome.
15761389 2005 Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15331616 2005 Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness.
14507859 2003 NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.
12552565 2003 Mutations in the CACNA1F and NYX genes in British CSNBX families.
12506099 2003 Identification of the gene and the mutation responsible for the mouse nob phenotype.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12397430 2002 Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
11062472 2000 The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
11062471 2000 Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
9418727 1997 Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp.
2574143 1989 Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.