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CABP4 encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Zusätzlich bieten wir Ihnen CABP4 Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.
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CABP4-related retinal disease is a cone-rod system disorder with possible foveal abnormalities.
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.
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 (zeige GPR179 Antikörper) gene.
Twenty-nine CACNA1F (zeige CACNA1F Antikörper) variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family.
we found a homozygous compound mutation in the CABP4 gene in 3 patients with congenital stationary night blindess 2.
Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 (zeige CACNA1F Antikörper) L-type Ca2 (zeige CA2 Antikörper)+ channels by Ca2 (zeige CA2 Antikörper)+-binding protein 4 (CaBP4).
This report significantly expands on the phenotype associated with calcium binding protein 4 mutations.
it is reported for the first time that mutations in CABP4 lead to autosomal recessive congenital stationary night blindness
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.
CaBP4 forms a collapsed structure around the IQ motif in Cav1.4 (zeige CACNA1F Antikörper) that may promote channel activation by disrupting an interaction between IQ and the inhibitor of Ca(2 (zeige CA2 Antikörper)+)-dependent inactivation domain
This study provides evidence that CaBP4 is dephosphorylated by PP2A (zeige PPP2R2B Antikörper) in the retina.
important for normal synaptic function, probably through regulation of Ca(2 (zeige CA2 Antikörper)+) influx and neurotransmitter release in photoreceptor synaptic terminals
our results implicate CaBP1 (zeige CABP1 Antikörper) rather than CaBP4 in conferring the anomalous slow inactivation of Ca(v)1.3 (zeige CACNA1D Antikörper) Ca(2 (zeige CA2 Antikörper)+) currents required for auditory transmission
These findings demonstrate how light-stimulated changes in CaBP4 phosphorylation and Ca2 (zeige CA2 Antikörper)+ binding may regulate presynaptic Ca2 (zeige CA2 Antikörper)+ signals in photoreceptors.
This study provides evidence for the interaction of CaBP4 with Unc119 (zeige UNC119 Antikörper) at the photoreceptor synapse.
This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B.
calcium-binding protein 4
, calcium binding protein 4
, calcium-binding protein 2