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FLASH GENE

Symbol

TMEM106B

contributors: mct/npt/pgu - updated : 22-12-2018

HGNC name	transmembrane protein 106B
HGNC id	22407

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

HLD16

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in Alzheimer disease brains, whereas GRN mRNA levels were elevated

Susceptibility

to frontotemporal lobar degeneration with TARDBP inclusions (FTLD-TDP) to neurodegenerative disease frontotemporal lobar degeneration to Parkinson's disease (PD)

Variant & Polymorphism SNP , other	variants in TMEM106B are a strong risk factor for FTLD-TDP, suggesting an underlying pathogenic mechanism
	most significant association of decrease of rs1990622, CC genotype with risk of FTLD was observed in the subgroup of GRN mutation carriers (TMEM106B SNPs significantly reduced the disease penetrance in patients with GRN mutations, potentially by modulating GRN levels)
	variants associated with neurodegenerative disease frontotemporal lobar degeneration risk correlate with increased expression of the 7p21 gene TMEM106B and no other genes
	rs1990622 and rs3173615 in TMEM106B may be associated with PD patients with initial symptom of rigidity/bradykinesia

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS