Recombinant Human Calcium-binding protein 4 (CABP4)

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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HGNC: 1386

OMIM: 608965

KEGG: hsa:57010

STRING: 9606.ENSP00000324960

UniGene: Hs.143036