rs141405110
This variant is located in the PPT1 gene.
▶ClinVar annotation
Neuronal ceroid lipofuscinosis 1; Inborn genetic diseases
View on ClinVar →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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