The CABP1 gene encodes Calcium Binding Protein 1, a neuron-specific member of the calmodulin superfamily that is responsible for modulating the calcium ion-dependent activity of inositol trisphosphate receptors as well as P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. It is involved in the negative regulation of protein import into the nucleus and in preventing NMDA receptor-induced cellular degeneration. By carrying out its function, CABP1 is also believed to play a role in neuronal signal transduction and memory.
The CABP1 gene is located on the long arm of chromosome 12. It spans a length of 26.7 kb of DNA and its coding sequence is contained within 9 exons. The gene encodes a 39.8 kDa protein product consisting of 370 amino acids, known as the caldendrin isoform. Other isoforms of the CABP1 protein include the 25 kDa L-CaBP1, the 19 kDa S-CaBP1, and the 8 kDa Calbrain. Predominant expression of the gene is seen in the retina and the brain.
Monies et al. (2017) discussed the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient with microcephaly was found to carry a heterozygous mutation (c.922C>T:p.R308X) in exon 4 of the CABP1 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant that was predicted to be deleterious, and the gene encodes a neuronal calcium-binding protein. The authors noted that further studies were required to help confirm this association.
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