PCLO

PCLO is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder.

Piccolo Presynaptic Cytomatrix Protein

Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (By similarity).
After synthesis, participates in the formation of Golgi-derived membranous organelles termed Piccolo-Bassoon transport vesicles (PTVs) that are transported along axons to sites of nascent synaptic contacts (By similarity).
At the presynaptic active zone, regulates the spatial organization of synaptic vesicle cluster, the protein complexes that execute membrane fusion and compensatory endocytosis (By similarity).
Organizes as well the readily releasable pool of synaptic vesicles and safeguards a fraction of them to be not immediately available for action potential-induced release (By similarity).
Functions also in processes other than assembly such as the regulation of specific presynaptic protein ubiquitination by interacting with SIAH1 or the regulation of presynaptic autophagy (By similarity).
Mediates also synapse to nucleus communication leading to reconfiguration of gene expression by associating with the transcriptional corepressor CTBP1 and by subsequently reducing the size of its pool available for nuclear import (By similarity).

Cytoskeleton organizationISS:UniProtKB
Insulin secretionIEA:Ensembl
Presynapse to nucleus signaling pathwayIEA:Ensembl
Presynaptic active zone assemblyManual Assertion Based On ExperimentIBA:GO_Central
Protein localization to synapseManual Assertion Based On ExperimentIBA:GO_Central
Regulation of exocytosisIEA:Ensembl
Synaptic vesicle clusteringIEA:Ensembl
Synaptic vesicle exocytosis1 PublicationNAS:UniProtKB

Cell junction, synapse, presynaptic active zone
Colocalizes with BSN in developing axons.

Pontocerebellar hypoplasia 3 (PCH3):
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay.