RC3H1 Chromosome 1
Ring finger and CCCH-type domains 1
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What This Gene Does
This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers CCCH-type"
Locus Type
gene with protein product
Location
1q25.1
Ensembl
ENSG00000135870
Associated Conditions (3)
Hemophagocytic lymphohistiocytosis
familial
6
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1659895952 | Health Risk | Pathogenic | Hemophagocytic lymphohistiocytosis, familial, 6 |