| PRND — Prion-Like Protein Doppel | |
|---|---|
| Symbol | PRND |
| Full Name | Prion Protein 2 (Doppel) |
| Chromosome | 20p13 (near PRNP) |
| NCBI Gene | 5622 |
| Ensembl | ENSG00000171540 |
| OMIM | 604521 |
| UniProt | Q9NSY5 |
| Protein | PRND Protein |
| Diseases | Prion Disease, Ataxia |
| Expression | Testis, Brain (low), Heart, Skeletal muscle |
PRND (Prion Protein 2), also known as Doppel (Dpl), is a gene located on chromosome 20p13 in the prion protein gene cluster, adjacent to PRNP [1]. The gene encodes a 176-amino acid GPI-anchored protein that shares structural homology with the prion protein (PrP) [1][2].
The PRND gene is approximately 6 kb downstream of PRNP and is expressed in a tissue-specific manner, with highest expression in testis and lower expression in brain [1]. The Doppel protein was discovered as an overexpression product in mice lacking the prion protein gene, where it caused ataxia and Purkinje cell degeneration [2].
PRND belongs to the prion protein family, which includes:
The normal physiological function of Doppel remains incompletely understood:
When overexpressed or misfolded, Doppel can cause neurodegeneration:
PRND mutations have been associated with:
While PRND is not a primary cause of human prion diseases:
The Doppel protein shares structural features with PrP:
Understanding PRND function may provide insights into:
Moore RC, et al. (2001). Doppel-induced neurodegeneration in mice. Nature, 413(6855):522-526.
Silverman GL, et al. (2000). Doppel is localized to the myelin sheath of central nervous system neurons. Journal of Neuroscience, 20(17):6365-6374.
Watts JC, et al. (2009). Prion protein biology and disease. Current Topics in Microbiology and Immunology, 337:1-33.
Chen C, et al. (2003). PRND: a prion-like protein expressed in human brain. Amyloid, 10(3):159-164.