Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9581
MIM: 609557
HGNC: 30228
Ensembl: ENSG00000138078
Variants:
dbSNP: 9581
ClinVar: 9581
TCGA: ENSG00000138078
COSMIC: PREPL
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37147110 | 2023 | Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis. | 1 |
| 37147110 | 2023 | Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis. | 1 |
| 32707643 | 2020 | A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. | 3 |
| 32707643 | 2020 | A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. | 3 |
| 29483676 | 2018 | The second point mutation in PREPL: a case report and literature review. | 9 |
| 29483676 | 2018 | The second point mutation in PREPL: a case report and literature review. | 9 |
| 23794250 | 2013 | Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. | 11 |
| 23794250 | 2013 | Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. | 11 |
| 22796000 | 2012 | Two novel deletions in hypotonia-cystinuria syndrome. | 6 |
| 22796000 | 2012 | Two novel deletions in hypotonia-cystinuria syndrome. | 6 |
| 19575798 | 2009 | Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair. | 8 |
| 19575798 | 2009 | Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair. | 8 |
| 18234729 | 2008 | Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. | 18 |
| 18234729 | 2008 | Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. | 18 |
| 16385448 | 2006 | Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome. | 36 |
Citation
Dessen P
PREPL (prolyl endopeptidase like)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46598/prepl
