CHFR Chromosome 12
Checkpoint with forkhead and ring finger domains
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What This Gene Does
This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
12q24.33
Ensembl
ENSG00000072609
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543324220 | Health Risk | Likely pathogenic | — |