CPSF3 Chromosome 2
Cleavage and polyadenylation specific factor 3
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What This Gene Does
This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]
Gene Info
Gene Group
"Cleavage and polyadenylation specific factor subunits|MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases"
Locus Type
gene with protein product
Location
2p25.1
Ensembl
ENSG00000119203
Associated Conditions (3)
Neurodevelopmental disorder with hypotonia
microcephaly
and seizures
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765749321 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, microcephaly, and seizures |