PCLO gene

piccolo presynaptic cytomatrix protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

From UniProt:

May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking.

From NCBI Gene:

  • Pontocerebellar hypoplasia type 3

From UniProt:

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. [MIM:608027]

Cytogenetic Location: 7q21.11, which is the long (q) arm of chromosome 7 at position 21.11

Molecular Location: base pairs 82,754,005 to 83,164,162 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q21.11, which is the long (q) arm of chromosome 7 at position 21.11
  • ACZ
  • PCH3