HIST1H3I
Description
The HIST1H3I gene encodes a histone H3.1 protein, a fundamental component of nucleosomes, the building blocks of chromatin. Histones play a vital role in packaging and regulating DNA, impacting various cellular processes like transcription and DNA replication. HIST1H3I is a highly conserved gene, with its expression being essential for normal development and cellular function. Mutations in this gene can lead to disruptions in chromatin structure, potentially contributing to various disease states.
Associated Diseases
- Cancer: Mutations in HIST1H3I have been linked to various cancers, including leukemia and lymphoma.
- Neurodevelopmental disorders: Aberrant HIST1H3I expression has been implicated in neurodevelopmental disorders like autism spectrum disorder.
- Developmental defects: Alterations in HIST1H3I function can contribute to developmental abnormalities and syndromes.
Did you know?
The HIST1H3I gene is located on chromosome 1, which is the largest human chromosome.
