| RareLSD_Id | 1055 |
| ENZYME | Palmitoylprotein thioesterase 2 |
| GENE | PPT2 |
| E.C.NUMBER | 3.1.2.22 |
| FAMILY | palmitoylprotein thioesterase |
| CYTOGENETICS | 6p21.32 |
| DISEASE | Neuronal Ceroid Lipofuscinosis & Narcolepsy |
| SNP | rs771678882,rs1000407887,rs1000918959,rs1000940084,rs1001259119 |
| DEPOSIT | autofluorescent ceroid lipofuscin |
| REF | 12855696, 10051407, 10417332 |
| TEMP (in Celsius) | 22 |
| pI | NA |
| pH | 7 |
| Catalytic Nucleophile | Ser111 |
Catalytic Acid/Base
| Met41, Gln116 |
| Substrate | 1-palmitoyl lysophosphatidylcholine + H2O |
| Product | glycerophosphocholine + palmitate |
| Structure(PDB/Phyre2_ID) | 1PJA |
| kM | 0.0273 |
| DRUG | BUCCOLAM,Brivaracetam,Gemfibrozil |
| SEQ LENGTH | 302 |
| AA SEQ | MLGLCGQRLPAAWVLLLLPFLPLLLLAAPAPHRASYKPVIVVHGLFDSSYSFRHLLEYINETHPGTVVTVLDLFDGRESLRPLWEQVQGFREAVVPIMAKAPQGVHLICYSQGGLVCRALLSVMDDHNVDSFISLSSPQMGQYGDTDYLKWLFPTSMRSNLYRICYSPWGQEFSICNYWHDPHHDDLYLNASSFLALINGERDHPNATVWRKNFLRVGHLVLIGGPDDGVITPWQSSFFGFYDANETVLEMEEQLVYLRDSFGLKTLLARGAIVRCPMAGISHTAWHSNRTLYETCIEPWLS |
| MODIFICATION | N-linked Glycosylation:Asn60,Asn190,Asn206,Asn245,Asn289 |
| INHIBITOR | 1-palmitoyl lysophosphatidylcholine,Chloroquine,Didemnin B,diethyl,dicarbote,dithiothreitol,KCl,leupeptin,Cl,palmitoylpeptide, palmitate,Sodium vadate |
| ACTIVE SITE RESIDUE | Ser111,Asp228,His283 |
| DISULPHIDE BRIDGES | *109-117,*165-176,*276-296 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | ?? hydrolase fold constitutes the core of PPT2 and includes the catalytic triad formed by Ser111, His283, and Asp228; PPT2 has significantly higher thioesterase activity against lipids with chain lengths of fewer than 10 carbons or lipids with very large chain lengths |
| PARALOGS | PPT2,EGFL8,PPT1 |
| MECHANISM | Removes thioesterlinked fatty acyl groups from substrates/SpalmitoylCoA. |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System |
| ENZYME LOCATION | OD |
| UniProt ID | Q9UMR5 |
