CSTF2 Chromosome X
Cleavage stimulation factor subunit 2
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What This Gene Does
This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"RNA binding motif containing|Cleavage stimulation factor subunits"
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000101811
Associated Conditions (2)
Intellectual developmental disorder
X-linked 113
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2521630196 | Health Risk | Pathogenic | Intellectual developmental disorder, X-linked 113, Intellectual developmental disorder |