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FLASH GENE

Symbol

GRN

contributors: mct - updated : 27-02-2015

HGNC name	granulin
HGNC id	4601

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

FTDU17 , CLN11

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in corticoadrenal carcinoma (malignant progression) constitutional somatic mutation       mutations creating null alleles cause tau-negative frontotemporal dementia tumoral     --over   in uterine leiomyosarcoma constitutional   deletion     sufficient to cause neurodegeneration constitutional   deletion     deleted with RUNDC3A in frontotemporal dementia constitutional       loss of function leads to dysregulated microglial activation and thereby contributes to increased neuron loss with injury tumoral     --over   in hepatocellular carcinoma but not in the adjacent non-tumor constitutional     --low   in 65 p100 of children with autism constitutional     --over   increased GRN in the skin of amyotrophic lateral sclerosis, related to the disease process and metabolic alteration of GRN may take place in the skin of patients with ALS constitutional     --over   in Alzheimer disease brains, whereas TMEM106B mRNA levels were decreased constitutional     --low gain of function both PSAP reduction and overexpression lead to significantly elevated extracellular GRN levels

Susceptibility

to Alzheimer disease and Parkinson disease to frontotemporal lobar degeneration (FTLD)

Variant & Polymorphism other	mutation frequency of GRN mutation was 6.6p100 in FTLD

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed obesity     may be a promising therapeutic target for obesity osteoarticular     potential target for developing and optimizing the therapeutic application in cartilage repair and arthritic disorders cancer digestive liver potential therapeutic target for HCC neurology neurodegenerative   therapeutic target for neurodegenerative diseases including motor neuron disease immunology autoimmune articular promising therapeutic target for rheumatoid arthritis

ANIMAL & CELL MODELS