GENETIC ENCYCLOPEDIA
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gene: RREB1

id6239
symbolRREB1
organismHomo sapiens
full nameras responsive element binding protein 1
summaryThe 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 Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
variant-disease

NC_000006.12:g.7075305_7111311dup AND Primary amenorrhea

GRCh37/hg19 6p25.1-24.3(chr6:6815015-7387789)x3 AND not provided

GRCh37/hg19 6p25.1-24.3(chr6:6959468-7476908)x3 AND not provided

GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3 AND See cases

GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 AND not provided

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