rs1348967263
This variant is located in the TPP1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesReviewMaria Kousi et al.(2012)· Human Mutation
A comprehensive mutation update of neuronal ceroid lipofuscinoses (NCLs), cataloging 365 NCL-causing mutations across eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8, CTSD/CLN10), with 91 novel mutations reported. The review emphasizes complex genotype-phenotype correlations in these autosomal recessive neurodegenerative disorders and demonstrates how different mutations can cause phenotypic convergence or divergence, including variable disease severity.
About TPP1
This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
View all TPP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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