SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders

SCAF4 is located at the chromosome locus 21q22.11, spans approximately 61kb of genomic DNA, and encodes serine/arginine-related carboxyl-terminal domain (CTD) -associated factor 4. Nine transcriptional variants have been described. Transcript 1 (NM_020706.2) consists of 20 exons, encoding 1147 amino acids, including a CTD-interacting domain (CID) and RNA-recognition motif (RRM) domain [1]. SCAF4 inhibits transcriptional reading [2]. Moreover, in combination with SCAF8, it inhibits the recognition of early alternative poly(A) sites, thereby preventing excessive production of nonfunctional truncated proteins [3].

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