rs535030441
This variant is located in the SPG7 gene.
▶ClinVar annotation
Hereditary spastic paraplegia 7; not provided; Hereditary spastic paraplegia; Inborn genetic diseases; not specified
View on ClinVar →About SPG7
This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
View all SPG7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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