ELP1 : elongator acetyltransferase complex subunit 1
Description
ELP1, or Elongator protein 1, is a vital component of the Elongator complex, a multi-protein complex essential for various cellular processes, including transcription, RNA processing, and ribosome biogenesis. The Elongator complex plays a crucial role in regulating histone acetylation, a key epigenetic modification that influences gene expression. ELP1, specifically, is known to be involved in the assembly and stability of the Elongator complex. It interacts with other Elongator subunits, contributing to the complex‘s proper formation and function. The ELP1 gene, located on chromosome 12, encodes a protein with several distinct domains, including a bromodomain, which enables it to bind to acetylated histones, and a WD40 domain, which is involved in protein-protein interactions.
Associated Diseases
- Neurodevelopmental disorders, such as intellectual disability and autism spectrum disorder
- Bone marrow failure syndromes
- Mitochondrial diseases
Did you know?
ELP1 is a highly conserved gene, meaning its sequence is very similar across different species, highlighting its fundamental importance in cellular function.
