" /> TPP1 wt Allele - CISMeF





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;

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17/08/2025


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