| RTN1 |
| LOCUS ID | 6252 | ||||||||||
| GENE_SYMBOL | RTN1 | ||||||||||
| GENE NAME | reticulon 1 | ||||||||||
| SYNONYMNS | NSP | ||||||||||
| CHROMOSOME | 14 | ||||||||||
| HOMOLOGENE ID | 49654 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. Three intronic RTN1 variants were nominally associated with T2D-ESKD in both discovery and replication analyses: rs1952034, rs12431381 and rs12434215 (additive models); combined T2D-ESKD (discovery+replication) p values were 0.015-3.0?10(-4) (ORs 0.67-0.77; minor alleles protective).Evidence of genetic association between common variants in RTN1 and ESKD in AAs(African Americans) and Eas(European American). | 26496126 |