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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function
    1
    1. ClingenBaseline 21 Oct 2026
      (f) Presynaptic localization of mouse CaBP4 (red) demonstrated by covisualization with a presynaptic protein (PSD95; green). Arrows indicate rod spherules and cone pedicles. (g) Colocalization of synaptic vesicle proteins SV2 and synaptophysin (green) with mouse CaBP4 (red).

      Biochemical evidence showing mouse CaBP4 (red) localization to the presynaptic region based on co-localization with the PSD95 marker (green).

      Experimental Function BiochemicalFunction Gene:CABP4 HGNC:1386 inferred_gene_hgnc:1386 inferred_gene_source:hgnc_tag Retina GCEP
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    pmc.ncbi.nlm.nih.gov/articles/PMC1352161/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Retinal findings in a patient of French ancestry with CABP4-related retinal disease
    1
    1. ClingenBaseline 21 Oct 2026
      Retinal findings in a patient of French ancestry with CABP4-related retinal disease

      PMID: 29525873

      Gene: CABP4

      HGNC: 1386

      Disease: cone-rod synaptic disorder, congenital nonprogressive

      MONDO: 0012490

      InheritancePattern: autosomal recessive

      Prevalence: The prevalence of the Åland eye disease or incomplete congenital stationary night blindness phenotype was estimated at 1 in 22,000 based on a Danish male cohort, with CABP4 variants specifically responsible for 1 out of 35 cases (PMID: 28002560).

      Penetrance: Penetrance appears to be 100% among the reported individuals harboring biallelic disease-causing CABP4 variants.

      General ClinGen Gene:CABP4 HGNC:1386 inferred_gene_hgnc:1386 inferred_gene_source:hgnc_tag Retina GCEP
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    pubmed.ncbi.nlm.nih.gov/29525873/