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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 Antikörper (60) und CABP4 Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.
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 gene.
Twenty-nine CACNA1F (zeige CACNA1F ELISA Kits) 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 ELISA Kits) L-type Ca2 (zeige CA2 ELISA Kits)+ channels by Ca2 (zeige CA2 ELISA Kits)+-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 ELISA Kits) that may promote channel activation by disrupting an interaction between IQ and the inhibitor of Ca(2 (zeige CA2 ELISA Kits)+)-dependent inactivation domain
This study provides evidence that CaBP4 is dephosphorylated by PP2A in the retina.
important for normal synaptic function, probably through regulation of Ca(2 (zeige CA2 ELISA Kits)+) influx and neurotransmitter release in photoreceptor synaptic terminals
our results implicate CaBP1 (zeige CABP1 ELISA Kits) rather than CaBP4 in conferring the anomalous slow inactivation of Ca(v)1.3 (zeige CACNA1D ELISA Kits) Ca(2 (zeige CA2 ELISA Kits)+) currents required for auditory transmission
These findings demonstrate how light-stimulated changes in CaBP4 phosphorylation and Ca2 (zeige CA2 ELISA Kits)+ binding may regulate presynaptic Ca2 (zeige CA2 ELISA Kits)+ signals in photoreceptors.
This study provides evidence for the interaction of CaBP4 with Unc119 (zeige UNC119 ELISA Kits) 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