SCAF4 (SR-Related CTD Associated Factor 4) - epilepsygene - Long-term Management Of Children With Epilepsy

SCAF4

Gene product: SR-Related CTD Associated Factor 4.

Protein function: SCAF4 is predicted to bind to the serine-phosphorylated CTD of POLR2A (the largest subunit of RNA polymerase II) during RNA transcription and to be involved in RNA splicing[1].

Phenotype: Neurodevelopmental Disorder (can characterized by mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies) (AD) [2]。

Mutation database: ClinVar.

Clinical and basic research: PubMed (PMID: 32730804 (Am J Hum Genet. 2020))

References:

Becker, R., B. Loll, and A. Meinhart, Snapshots of the RNA processing factor SCAF8 bound to different phosphorylated forms of the carboxyl-terminal domain of RNA polymerase II. J Biol Chem, 2008. 283(33): p. 22659-69.
Fliedner, A., et al., Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing. Am J Hum Genet, 2020. 107(3): p. 544-554.