SPG7 wt Allele

Preferred Label : SPG7 wt Allele;

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

NCIt 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.;

NCIt note : A potential coding sequence was erroneously identified in the 3-prime UTR of the SPG7 gene that was though to encode a cell matrix adhesion regulator. However, there is no experimental evidence for the existence of this protein. (UniProt);

GenBank Accession Number : Y16610;

Details

Origin ID

C208022;

OMIM relation
- Spg7 matrix aaa peptidase subunit, paraplegin [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q24.3 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Hydrolysis [NCIt concept]
- Metal Ion Binding [NCIt concept]
- Nervous System Development [NCIt concept]
- Neural Development [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients