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CABP4 encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Additionally we are shipping CABP4 Antibodies (63) and many more products for this protein.
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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 gene.
Twenty-nine CACNA1F 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 L-type Ca2+ channels by Ca2+-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 that may promote channel activation by disrupting an interaction between IQ and the inhibitor of Ca(2+)-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+) influx and neurotransmitter release in photoreceptor synaptic terminals
our results implicate CaBP1 rather than CaBP4 in conferring the anomalous slow inactivation of Ca(v)1.3 Ca(2+) currents required for auditory transmission
These findings demonstrate how light-stimulated changes in CaBP4 phosphorylation and Ca2+ binding may regulate presynaptic Ca2+ signals in photoreceptors.
This study provides evidence for the interaction of CaBP4 with Unc119 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