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FLASH GENE

Symbol

SPG7

contributors: mct/npt - updated : 09-04-2020

HGNC name	SPG7 matrix AAA peptidase subunit, paraplegin
HGNC id	11237

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SPG7

related resource

MITOP database

Susceptibility

to sporadic spastic paraparesis

Variant & Polymorphism other	mutations are a frequent cause of sporadic spastic paraparesis (Brugman 2008)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Drosophila Spg7 mutants exhibited shortened lifespan, progressive locomotor defects, sensitivity to chemical and environmental stress, and muscular and neuronal degeneration
	mouse model of Spg7-linked hereditary spastic paraplegia is an isoform-specific knock-out, in which mitochondrial paraplegin is specifically ablated, while expression of paraplegin-2 is retained