GNAT2 Antibody, FITC conjugated

Code CSB-PA009599LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) GNAT2 Polyclonal antibody
Uniprot No.
Target Names
GNAT2
Alternative Names
ACHM4 antibody; Cone type transducin alpha subunit antibody; GNAT 2 antibody; GNAT C antibody; Gnat2 antibody; GNAT2_HUMAN antibody; GNATC antibody; Guanine nucleotide binding protein (G protein) alpha transducing activity polypeptide 2 antibody; Guanine nucleotide binding protein G t subunit alpha 2 antibody; Guanine nucleotide-binding protein G(t) subunit alpha-2 antibody; Transducin alpha 2 antibody; Transducin alpha-2 chain antibody; Transducin alpha2 antibody; Transducin cone specific alpha polypeptide antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Guanine nucleotide-binding protein G(t) subunit alpha-2 protein (2-139AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
FITC
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.
Gene References into Functions
  1. The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R). PMID: 23362848
  2. Single nucleotide polymorphisms in GNAT2 gene is associated with obesity. PMID: 23563607
  3. Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia. PMID: 21267001
  4. Expression of GNAT2 transgene, when found in rod photoreceptor cells rather than in cones, demonstrates different mechanisms of amplification in the body's G-protein alpha cascades and the activation of phosphodiesterase 6. PMID: 20603337
  5. Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. PMID: 21107338
  6. mutations in GNAT2 are implicated in achromatopsia PMID: 12077706
  7. We detected a deletion of a highly conserved lysine at codon 270 in a critical functional area of the alpha-cone transducin molecule, and therefore is not the disease causing mutation. PMID: 15094710

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Involvement in disease
Achromatopsia 4 (ACHM4)
Subcellular Location
Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment.
Protein Families
G-alpha family, G(i/o/t/z) subfamily
Tissue Specificity
Retinal rod outer segment.
Database Links

HGNC: 4394

OMIM: 139340

KEGG: hsa:2780

STRING: 9606.ENSP00000251337

UniGene: Hs.36973

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