DISEASES

Disease-gene associations mined from literature

Literature associating SPG7 and hereditary spastic paraplegia 76

SPG7 [ENSP00000268704]

Spastic paraplegia 7 (pure and complicated autosomal recessive); ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function; In the N-terminal section; belongs to the AAA ATPase family.

Synonyms:  SPG7,  SPG7p,  hSPG7,  H3BMP1,  H3BTY6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM