Histone Lysine Demethylase 5B Role in Autism Spectrum Disorder
DOI:
https://doi.org/10.47611/jsrhs.v11i4.3445Keywords:
KDM5B, ASD, Autism Spectrum Disorder, Nuerodevelopmental Disorders, Genetics, Epigenetics, DNA demethylation, HistonesAbstract
KDM5B, a histone lysine demethylase “eraser” protein, is a transcriptional repressor of active promoter regions on histone 3 lysine K4. KDM5B is crucial to regulating gene expression and development. Previously, all mutations in KDM5B were described in cancer. High-performance sequencing revealed missense, frameshift, and nonsense mutations in KDM5B that can be linked to developmental disorders like autism spectrum disorder (ASD). This review summarizes KDM5B’s role in ASD and other developmental disorders.
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