What does progranulin gene do?
The GRN gene provides instructions for making a protein called progranulin. This protein is primarily found in the membrane of cellular structures called lysosomes, which are specialized compartments that digest and recycle materials.
What is a GRN in genetics?
A gene (or genetic) regulatory network (GRN) is a collection of molecular regulators that interact with each other and with other substances in the cell to govern the gene expression levels of mRNA and proteins which, in turn, determine the function of the cell.
What does TDP 43 stand for?
TAR DNA-binding protein 43 (TDP-43, transactive response DNA binding protein 43 kDa), is a protein that in humans is encoded by the TARDBP gene.
What is the MAPT gene?
The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain.
What is a gene cascade?
Many genes encode transcription factors that, in turn, induce the expression of other transcription factors, thus creating cascades of gene expression wherein a multistep signaling pathway results in amplification of the initial signal.
Where is TDP-43 protein found?
The TARDBP gene provides instructions for making a protein called transactive response DNA binding protein 43 kDa (TDP-43). This protein is found within the cell nucleus in most tissues and is involved in many of the steps of protein production.
Which disease is caused by MAPT gene?
Mutations in the MAPT gene have also been found to cause other brain disorders similar to FTDP-17 and progressive supranuclear palsy. These disorders include corticobasal degeneration, tauopathy with respiratory failure, and a form of dementia with seizures (epilepsy).
What chromosome is MAPT on?
DNA regulatory elements involved in Tau expression. The human MAPT gene is a long (134 kb) gene located on chromosome 17q21.
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