SPG7 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SPG7 wild-type allele is located in the vicinity of 16q24.3 and is approximately 67 kb in length. This allele, which encodes mitochondrial inner membrane m-AAA protease component paraplegin protein, plays a role in mitochondrial responses to stressors such as oxidative stress and unfolded proteins. Mutations in the gene are associated with autosomal recessive spastic paraplegia 7.

**Synonyms:** - CAR - CMAR - Cell Adhesion Regulator Gene - PGN - Paraplegin Gene - SPG5C - SPG7 Matrix AAA Peptidase Subunit, Paraplegin wt Allele - SPG7, Paraplegin Matrix AAA Peptidase Subunit Gene - Spastic Paraplegia 7 (Pure and Complicated Autosomal Recessive) Gene