CABP4 Antibody, FITC conjugated

Code CSB-PA004390LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) CABP4 Polyclonal antibody
Uniprot No.
Target Names
CABP4
Alternative Names
CABP4 antibody; Calcium-binding protein 4 antibody; CaBP4 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Calcium-binding protein 4 protein (1-107AA)
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
Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages.
Gene References into Functions
  1. CABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities. PMID: 29525873
  2. Foveal thinning is a feature of CABP4 retinopathy. Normal autofluorescence is consistent with inner retinal dysfunction and suggests the condition could be amenable to gene therapy. Retinal dysfunction was stable throughout follow-up. PMID: 28635425
  3. In this study, a novel compound heterozygous mutation, c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3 gene of a proband. No mutations were identified in the CABP4 or GPR179 gene. PMID: 27428514
  4. Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. PMID: 28002560
  5. we found a homozygous compound mutation in the CABP4 gene in 3 patients with congenital stationary night blindess 2. PMID: 23714322
  6. Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4). PMID: 22936811
  7. This report significantly expands on the phenotype associated with calcium binding protein 4 mutations. PMID: 20157620
  8. it is reported for the first time that mutations in CABP4 lead to autosomal recessive congenital stationary night blindness PMID: 16960802
  9. A novel homozygous nonsense mutation in CABP4 in two siblings resulted in a phenotype with severely reduced cone function and only negligibly reduced rod function on electroretinography and psychophysical testing. PMID: 19074807

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Involvement in disease
Cone-rod synaptic disorder, congenital non-progressive (CRSD)
Subcellular Location
Cytoplasm. Cell junction, synapse, presynapse.
Tissue Specificity
Expressed in retina and in the inner hair cells (IHC) of the cochlea.
Database Links

HGNC: 1386

OMIM: 608965

KEGG: hsa:57010

STRING: 9606.ENSP00000324960

UniGene: Hs.143036

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