H4C16

Chr 12

H4 histone 16

Also known as: H4-16, H4/p, HIST4H4

NCBI Gene: 121504 ENSG00000197837 UniProt: P62805

The H4C16 protein is a core histone component that forms nucleosomes by wrapping DNA around histone octamers, playing a central role in chromatin structure, transcription regulation, DNA repair, and chromosomal stability. Mutations in H4C16 cause neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, inherited in an autosomal dominant pattern. This gene shows low constraint against loss-of-function variants, suggesting the associated disorder likely involves altered protein function rather than simple protein loss.

ResearchSummary from RefSeq, UniProt

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq, Aug 2015]

ResearchGenerating clinical summary…