Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

SQSTM1

contributors: mct/ - updated : 12-11-2016

HGNC name	sequestosome 1
HGNC id	11280

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PDB3 , NADGP , FTDALS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   accumulation in the drusen rich macular area suggesting impaired autophagy in the pathology of age-related macular degeneration (AMD) constitutional germinal mutation       in patients with either FTLD or ALS

Susceptibility

to the development of Paget disease to familial and sporadic ALS

Variant & Polymorphism other	(P392L) expression on osteoclasts is not sufficient to induce the full pagetic phenotype but cause a predisposition to the development of Paget disease by increasing the sensitivity of osteoclast precursors to osteoclastogenic cytokines
	p.Ala53Thr and p.Pro439Leu, associated with sporadic ALS

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS