CSTF3

Chr 11

cleavage stimulation factor subunit 3

Also known as: CSTF-77

NCBI Gene: 1479 ENSG00000176102 UniProt: Q12996 OMIM: 600367

The protein is one of three cleavage stimulation factors that form the CSTF complex, which is required for polyadenylation and 3'-end cleavage of pre-mRNAs. Mutations cause autosomal dominant developmental and epileptic encephalopathy with early infantile onset. This gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal development.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

LOF

Mechanism· predicted