External Ids for CABP4 Gene
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. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
GeneCards Summary for CABP4 Gene
CABP4 (Calcium Binding Protein 4) is a Protein Coding gene. Diseases associated with CABP4 include night blindness, congenital stationary , 2b, autosomal recessive and retinal disease. Among its related pathways are Visual Cycle in Retinal Rods. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CABP2.
UniProtKB/Swiss-Prot for CABP4 Gene
Involved in normal synaptic function through regulation of Ca(2+) influx and neurotransmitter release in photoreceptor synaptic terminals and in auditory transmission. Modulator of CACNA1D and CACNA1F, suppressing the calcium-dependent inactivation and shifting the activation range to more hyperpolarized voltages (By similarity).