| RREB1 |
| LOCUS ID | 6239 | ||||||||||
| GENE_SYMBOL | RREB1 | ||||||||||
| GENE NAME | ras responsive eleme | ||||||||||
| SYNONYMNS | HNT, FINB, LZ321, Zep-1, RREB-1 | ||||||||||
| CHROMOSOME | 6 | ||||||||||
| HOMOLOGENE ID | 2218 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in RaRaf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. We posit that variants in RREB1 modulate seemingly disparate phenotypes (i.e. T2D, T2D-ESKD and non-T2D-ESKD) through altered activity ing from splice site and missense variants. | 25027322 |