HIST1H3D
Histone 1H3d (HIST1H3D): An In-Depth Exploration
Description
Histone 1H3d is a core histone protein that plays a crucial role in the structure and function of chromatin, the complex of DNA and proteins that constitutes chromosomes. It is one of the five main histone proteins (H1, H2A, H2B, H3, and H4) that form the octameric core of nucleosomes, the basic units of chromatin.
HIST1H3D is responsible for binding to the linker DNA between nucleosomes, helping to compact the chromatin structure. It also participates in regulating gene transcription by influencing the accessibility of DNA to transcription factors.
Associated Diseases
Mutations in the HIST1H3D gene have been linked to several developmental disorders, including:
- Weaver syndrome: A rare genetic disorder characterized by intellectual disability, distinctive facial features, and growth delays.
- Kabuki syndrome: A rare genetic disorder characterized by intellectual disability, distinctive facial features, and postnatal growth deficiency.
- Joubert syndrome: A rare genetic disorder characterized by intellectual disability, developmental delays, and ataxia (difficulty with coordination and balance).
Did you Know ?
Approximately 1 in 230,000 individuals are affected by Weaver syndrome, making it one of the rarest genetic disorders.
