CSTF3

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Description

The CSTF3 (cleavage stimulation factor subunit 3) is a protein-coding gene located on chromosome 11.

Cleavage stimulation factor 77 kDa subunit is a protein encoded by the CSTF3 gene in humans. It is one of three subunits (CSTF1, CSTF2, and CSTF3) that make up the cleavage stimulation factor complex (CSTF). This complex is essential for the polyadenylation and 3' end cleavage of pre-mRNAs. CSTF3 forms a homodimer and interacts directly with both CSTF1 and CSTF2 within the complex. Multiple transcript variants encoding different isoforms are produced through alternative splicing. CSTF3 has been shown to interact with CSTF2.

Plays a crucial role in the process of polyadenylation and 3' end cleavage of messenger RNA precursors (pre-mRNAs) in mammalian cells.

CSTF3 is also known as CSTF-77.

Associated Diseases

• retinitis pigmentosa
• X-linked retinal dysplasia
• snowflake vitreoretinal degeneration
• severe early-childhood-onset retinal dystrophy
• X-linked retinoschisis
• Coats disease
• isolated aniridia
• cataract 50 with or without glaucoma
• congenital primary aphakia
• birdshot chorioretinopathy
• isolated ectopia lentis
• Stickler syndrome type 2
• exudative vitreoretinopathy 2, X-linked
• Wagner disease