DISEASES

Disease-gene associations mined from literature

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Literature associating SPG7 and hereditary spastic paraplegia 49

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

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.