present in Gene: TPP1
present in Chromosome: 11
Position on Chromosome: 6616375
Alleles of this Variant: G/A;C
rs750428882 in
TPP1 gene and
Seizures
PMID 24091540 2013 Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
PMID 19038967 2009 Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.
PMID 21990111 2012 Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
PMID 19038966 2009 Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.