TPP1 wt Allele

Preferred Label : TPP1 wt Allele;

NCIt synonyms : GIG1; CLN2; Spinocerebellar Ataxia, Autosomal Recessive 7 Gene; Cell Growth-Inhibiting Gene 1 Gene; SCAR7; Ceroid-Lipofuscinosis, Neuronal 2, Late Infantile (Jansky-Bielschowsky Disease) Gene; TPP-1; Lysosomal Pepstatin Insensitive Protease Gene; Tripeptidyl Peptidase I Gene; TPP I; LPIC; Growth-Inhibiting Protein 1 Gene; Tripeptidyl Peptidase 1 wt Allele; Lysosomal Pepstatin-Insensitive Carboxypeptidase Gene;

NCIt definition : Human TPP1 wild-type allele is located in the vicinity of 11p15.4 and is approximately 7 kb in length. This allele, which encodes tripeptidyl-peptidase 1 protein, plays a role in lysosomal degradation of proteins. Mutations in the gene are associated with neuronal ceroid lipofuscinosis 2 and autosomal recessive spinocerebellar ataxia 7.;

GenBank Accession Number : AF017456;

Détails

Origin ID

C213108;

OMIM relation
- Tripeptidyl peptidase I [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p15.4 [NCIt concept]
gene_is_element_in_pathway
- Lysosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Degradation Process [NCIt concept]
- Proteolysis [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients