ZFAT Chromosome 8
Zinc finger and AT-hook domain containing
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What This Gene Does
This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
8q24.22
Ensembl
ENSG00000066827
Associated Conditions (3)
Autoimmune thyroid disease
susceptibility to
3
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112892337 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199724546 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS16905194 | Health Risk | risk factor | Autoimmune thyroid disease, susceptibility to, 3 |