What is the progranulin gene?

Progranulin is a highly conserved secreted protein encoded by the GRN gene on human chromosome 17q21. Progranulin contains 7 and a half repeats of cysteine-rich granulin motifs separated by linker regions.

What is the GRN gene?

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 FTD progranulin gene mutation?

Background: Mutations in the progranulin (GRN) gene are a major cause of familial frontotemporal dementia. They result in a loss of progranulin levels and in GRN-related brain degenerative changes that unfold over years if not decades.

What is PGRN gene?

Progranulin (PGRN), a 593-amino-acid autocrine growth factor has multiple functions involved in cell proliferation, wound healing, neurodegeneration, insulin resistance, and tumorigenesis.

What is the C9orf72 gene?

The C9orf72 gene provides instructions for making a protein that is found in various tissues. The protein is abundant in nerve cells (neurons) in the outer layers of the brain (cerebral cortex) and in specialized neurons in the brain and spinal cord that control movement (motor neurons).

Where is the C9orf72 gene?

The human C9orf72 gene is located on the short (p) arm of chromosome 9 open reading frame 72, from base pair 27,546,546 to base pair 27,573,866 (GRCh38). Its cytogenetic location is at 9p21. 2. The protein is found in many regions of the brain, in the cytoplasm of neurons as well as in presynaptic terminals.

Is C9orf72 dominant?

C9orf72-FTD/ALS is inherited in an autosomal dominant manner.

What is progranulin (granulin-epithelin precursor) used for?

He Z, Bateman A. Progranulin (granulin-epithelin precursor, PC-cell-derived growth factor, acrogranin) mediates tissue repair and tumorigenesis. J Mol Med. 2003;81:600–612. [ PubMed] [ Google Scholar] 45.

Where is progranulin found in the body?

Progranulin is detected in proliferating blood vessels [66], and transgenic mice overexpressing progranulin in endothelial cells exhibited vascular abnormalities in late gestation [67].

What is the role of progranulin in the pathophysiology of neurodegeneration?

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival. J. Cell Biol.181, 37–41. 10.1083/jcb.200712039 [PMC free article][PubMed] [CrossRef] [Google Scholar]

Is progranulin an emerging target for FTLD therapies?

Gass J, et al. Progranulin: An emerging target for ftld therapies. Brain Res. 2012;109:21510–21515. [PMC free article][PubMed] [Google Scholar]