Gene: LOC101927863

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SPG7

Alternate names for this Gene: CAR|CMAR|PGN|SPG5C

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: SPG7 matrix AAA peptidase subunit, paraplegin

Type of Gene: protein-coding

rs4785574 in LOC101927863;SPG7 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.