GLI1 Chromosome 12
GLI family zinc finger 1
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What This Gene Does
This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000111087
Associated Conditions (4)
Polydactyly
postaxial
type A8
GLI1-related disorder
Key Variants
RS147997893
Conflicting classifications of pathogenicity
Health Risk
RS547877619
Conflicting classifications of pathogenicity
Polydactyly, postaxial, type A8
Health Risk
RS1871565914
Likely pathogenic
Polydactyly, postaxial, type A8
Health Risk
RS199831983
Likely pathogenic
GLI1-related disorder, GLI1-related disorder
Health Risk
RS758888293
Likely pathogenic
Health Risk
RS759448855
Likely pathogenic
Health Risk
RS1309855392
Pathogenic
Polydactyly, postaxial, type A8
Health Risk
RS1565601979
Pathogenic
Polydactyly, postaxial, type A8
Health Risk
RS748321474
Pathogenic
Polydactyly, postaxial, type A8
Health Risk
RS771400496
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147997893 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS547877619 | Health Risk | Conflicting classifications of pathogenicity | Polydactyly, postaxial, type A8 |
| RS1871565914 | Health Risk | Likely pathogenic | Polydactyly, postaxial, type A8 |
| RS199831983 | Health Risk | Likely pathogenic | GLI1-related disorder, GLI1-related disorder |
| RS758888293 | Health Risk | Likely pathogenic | — |
| RS759448855 | Health Risk | Likely pathogenic | — |
| RS1309855392 | Health Risk | Pathogenic | Polydactyly, postaxial, type A8 |
| RS1565601979 | Health Risk | Pathogenic | Polydactyly, postaxial, type A8 |
| RS748321474 | Health Risk | Pathogenic | Polydactyly, postaxial, type A8 |
| RS771400496 | Health Risk | Pathogenic | — |