Western Blot
Positive WB detected in: Mouse liver tissue
All lanes: GNAT1 antibody at 3μg/ml
Secondary
Goat polyclonal to rabbit IgG at 1/50000 dilution
Predicted band size: 41 kDa
Observed band size: 41 kDa
Immunohistochemistry of paraffin-embedded human lung cancer using CSB-PA009598LA01HU at dilution of 1:100
Immunofluorescent analysis of Hela cells using CSB-PA009598LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Functions as signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina. Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase.
基因功能參考文獻:
Our family's ERG showed essentially no rod response, consistent with a Danish GNAT1 pedigree but different from the Nougaret GNAT1 pedigree that shows partial preservation of rod signal. A genetic connection between Complete congenital stationary night blindness and postural orthostatic tachycardia syndrome would be intriguing, but we found no evidence for this. PMID: 30051303
These data suggest that some truncating GNAT1 variants can indeed cause a recessive, mild, late-onset retinal degeneration in human beings rather than just stationary night-blindness as reported previously. PMID: 26472407
Three candidate tumor-suppressor genes, SEMA3B, AXUD1 and GNAT1 may be involved in oral squamous cell carcinoma. PMID: 23292452
These data suggest that a homozygous missense mutation in GNAT1 is associated with autosomal recessive stationary night blindness. PMID: 22190596
Expression of GNAT1 gene is down-regulated or absent in nasopharyngeal carcinoma tissues. PMID: 17222360
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相關疾病:
Night blindness, congenital stationary, autosomal dominant 3 (CSNBAD3); Night blindness, congenital stationary, 1G (CSNB1G)