CPLX4
Description
The CPLX4 (complexin 4) is a protein-coding gene located on chromosome 18.
CPLX4, also known as Complexin IV, is involved in regulating the fusion of synaptic vesicles, which are tiny sacs that store neurotransmitters. This protein is crucial for maintaining the structural integrity of synapses in the adult retina. It plays a key role in boosting synaptic transmission by increasing the availability of synaptic vesicles and promoting the release of neurotransmitters at photoreceptor ribbon synapses in the retina. CPLX4 also helps to reduce background noise in photoreceptor activity by suppressing the continuous release of calcium-containing vesicles and facilitating the synchronized and unsynchronized release of calcium-containing vesicles when stimulated.
CPLX4 is also known as CPX-IV, CPXIV.
Associated Diseases
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin D disease
- isolated asymptomatic elevation of creatine phosphokinase
- IRIDA syndrome
- hemochromatosis type 5
- hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- pentosuria
- dominant beta-thalassemia
- delta-beta-thalassemia
