PPT2
palmitoyl-protein thioesterase 2
Summary
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]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs192471087 | 6:32,119,730 | G/C | regulatory region variant | — |
| rs748585480 | 6:32,122,411 | G/A | — | likely benign |
| rs534337753 | 6:32,122,520 | A/G | — | uncertain significance |
| rs1783632028 | 6:32,122,535 | T/A | — | uncertain significance |
| rs2484190939 | 6:32,122,807 | A/T | — | uncertain significance |
| rs774197229 | 6:32,122,822 | G/C | — | uncertain significance |
| rs764309245 | 6:32,122,918 | G/A | — | uncertain significance |
| rs1403917626 | 6:32,122,928 | C/T | — | uncertain significance |
| rs1161647062 | 6:32,122,957 | C/G | — | uncertain significance |
| rs2484201236 | 6:32,123,470 | C/A | — | uncertain significance |
| rs766967673 | 6:32,123,686 | C/T | — | uncertain significance |
| rs10947233 | 6:32,124,424 | G/C | — | — |
| rs367909223 | 6:32,125,637 | C/T | — | uncertain significance |
| rs556550910 | 6:32,125,694 | C/G | — | uncertain significance |
| rs3134950 | 6:32,127,477 | C/A | upstream gene variant | — |
| rs9267812 | 6:32,128,394 | C/T | upstream gene variant | — |
| rs9469087 | 6:32,129,465 | A/G | upstream gene variant | — |
| rs771678882 | 6:32,130,584 | G/A | — | uncertain significance |
| rs766049550 | 6:32,130,594 | G/C | — | uncertain significance |
| rs767427607 | 6:32,130,650 | A/G | — | uncertain significance |
| rs770595939 | 6:32,130,708 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.