Purkinje Cell Protein 4 (PCP4)

The murine Pcp4 gene, whose product (PEP19) was originally isolated in rat as a cerebellar peptide with increased postnatal expression, is highly expressed in brain, primarily in cerebellar Purkinje cells. Sequence analysis revealed that the gene encodes a 62-amino acid polypeptide.

The gene is expressed as a 0.5-kb transcript that was detected by Northern blot analysis only in fetal brain tissue. Because of its neuron-specific expression and its presence in the Down syndrome critical region of chromosome 21, PEP19 overexpression could be involved in some phenotype(s) of Down syndrome.PCP4 gene spans at least 55 kb and contains 2 introns, the placement of which is the same as in mouse.