Western blot
All lanes: NYX antibody at 7.23 μg/ml
Lane 1: Mouse gonadal tissue
Lane 2: Mouse liver tissue
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 52 kDa
Observed band size: 52, 37, 45, 90 kDa
Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA016237ESR1HU at dilution of 1:100
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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness were described. PMID: 26234941
Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. PMID: 25802485
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
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
A mutation was identified in NYX in 20 male patients with Congenital Stationary Night Blindness 1. PMID: 23714322
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
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
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. PMID: 12397430
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
Human and mouse nyctalopin are membrane-bound extracellular proteins and are functionally conserved. PMID: 14507859
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
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
Results support a role for nyctalopin in synaptic transmission and/or synapse formation at ribbon synapses in the retina. PMID: 16553780
X-linked congenital night blindness mutations are reported in Chinese males in two families. PMID: 16670814
Mutations in NYX may cause high myopia without congenital stationary night blindness. PMID: 17392683
The c.855delG deletion in NYX seems to be a common mutation associated with CSNB in the Flemish population from Belgium. PMID: 18617546
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
Novel mutations of NYX were identified in two Chinese families with CSNB1 and myopia. PMID: 16670814
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Night blindness, congenital stationary, 1A (CSNB1A)
Small leucine-rich proteoglycan (SLRP) family, SLRP class IV subfamily
組織特異性:
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.