rs386833671
This is a variant in the PPT1 gene that changes a leucine to an arginine.
▶ClinVar annotation
Neuronal ceroid lipofuscinosis 1 (CLN1)
View on ClinVar →▶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 PPT1
The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
View all PPT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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