RREB1 Chromosome 6
Ras responsive element binding protein 1
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What This Gene Does
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 Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
6p24.3
Ensembl
ENSG00000124782
Associated Conditions (3)
RREB1-related disorder
See cases
RREB1-associated Noonan-like syndrome
Key Variants
RS114810122
Conflicting classifications of pathogenicity
RREB1-related disorder, RREB1-related disorder
Health Risk
RS115374113
Conflicting classifications of pathogenicity
Health Risk
RS141007836
Conflicting classifications of pathogenicity
Health Risk
RS146744494
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS148224708
Conflicting classifications of pathogenicity
Health Risk
RS368515443
Conflicting classifications of pathogenicity
Health Risk
RS2533134194
Pathogenic
RREB1-associated Noonan-like syndrome, RREB1-associated Noonan-like syndrome
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114810122 | Health Risk | Conflicting classifications of pathogenicity | RREB1-related disorder, RREB1-related disorder |
| RS115374113 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141007836 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146744494 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS148224708 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368515443 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2533134194 | Health Risk | Pathogenic | RREB1-associated Noonan-like syndrome, RREB1-associated Noonan-like syndrome |