SP6 Chromosome 17
Sp6 transcription factor
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What This Gene Does
SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|Sp transcription factors"
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000189120
Associated Conditions (2)
Amelogenesis imperfecta
IIa 1K
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2143647637 | Health Risk | Pathogenic | Amelogenesis imperfecta, IIa 1K, Amelogenesis imperfecta |