rs2484201236
This variant is located in the PPT2 gene.
▶ClinVar annotation
About PPT2
This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]
View all PPT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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