SMARCD3

Description

The SMARCD3 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3) is a protein-coding gene located on chromosome 7.

SMARCD3 is a protein that plays a crucial role in regulating gene expression. It belongs to the SWI/SNF family of proteins, which are known for their ability to remodel chromatin, the complex of DNA and proteins that makes up chromosomes. This remodeling process involves altering the structure of nucleosomes, the basic units of chromatin, to make genes more or less accessible to the cellular machinery that reads and uses genetic information. SMARCD3 is specifically involved in the formation and function of several SWI/SNF complexes, including those found in neural progenitor cells and neurons. This suggests that SMARCD3 is critical for the proper development and function of the nervous system. SMARCD3 also interacts with various transcription factors and nuclear receptors, highlighting its diverse roles in gene regulation.

SMARCD3 is involved in regulating gene expression by remodeling chromatin, which is the complex of DNA and proteins that make up chromosomes. It does this by altering the structure of nucleosomes, the basic units of chromatin, in an ATP-dependent manner. SMARCD3 is a component of several SWI/SNF chromatin remodeling complexes, including the neural progenitors-specific complex (npBAF) and the neuron-specific complex (nBAF). During neural development, SMARCD3 is involved in the transition from npBAF to nBAF complexes, which is essential for the differentiation of neural stem cells into neurons. SMARCD3 also plays a role in regulating the activity of genes involved in dendrite growth.

SMARCD3 is also known as BAF60C, CRACD3, Rsc6p.

Associated Diseases

WES Whole Exome Sequencing