| RareLSD_Id | 1025 |
| ENZYME | Cathepsin C |
| GENE | CTSC |
| E.C.NUMBER | 3.4.14.1 |
| FAMILY | peptidase C1 |
| CYTOGENETICS | 11q14.1q14.3 |
| DISEASE | Papillon-Lefevre syndrome (PLS) |
| SNP | rs1044703733,rs104894206,rs104894207,rs104894208,rs104894209 |
| DEPOSIT | proteins |
| REF | 9092576 , 7649281 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4.5-6.8. |
| Catalytic Nucleophile | thiol group of a cysteine |
Catalytic Acid/Base
| NA |
| Substrate | GlyArg4-methylcoumarin7-amide + H2O |
| Product | GlyArg + 7-amino4-methylcoumarin |
| Structure(PDB/Phyre2_ID) | 3PDF |
| kM | 6.4 |
| DRUG | NA |
| SEQ LENGTH | 463 |
| AA SEQ | MGAGPSLLLAALLLLLSGDGAVRCDTPANCTYLDLLGTWVFQVGSSGSQRDVNCSVMGPQEKKVVVYLQKLDTAYDDLGNSGHFTIIYNQGFEIVLNDYKWFAFFKYKEEGSKVTTYCNETMTGWVHDVLGRNWACFTGKKVGTASENVYVNIAHLKNSQEKYSNRLYKYDHNFVKAINAIQKSWTATTYMEYETLTLGDMIRRSGGHSRKIPRPKPAPLTAEIQQKILHLPTSWDWRNVHGINFVSPVRNQASCGSCYSFASMGMLEARIRILTNNSQTPILSPQEVVSCSQYAQGCEGGFPYLIAGKYAQDFGLVEEACFPYTGTDSPCKMKEDCFRYYSSEYHYVGGFYGGCNEALMKLELVHHGPMAVAFEVYDDFLHYKKGIYHHTGLRDPFNPFELTNHAVLLVGYGTDSASGMDYWIVKNSWGTGWGENGYFRIRRGTDECAIESIAVAATPIPKL |
| MODIFICATION | N-linked Glycosylation:Asn29,Asn53,Asn144,Asn275 |
| INHIBITOR | Mersalyl acid,Cystatin(A,B,C,SN,2b,2a,2c),Rhycyst,MW4IodoacetamideOvocystatin,N-ethylmaleimide,GlyPhediazomethane,TLCK,TPCK,Dithiodipyridine |
| ACTIVE SITE RESIDUE | Gln251,Cys257,His404,Asn426 |
| DISULPHIDE BRIDGES | *30-118,*54136,*255-298,*291-331,*321-337 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | CTSF,CTSO,CTSW,CTSV,CTSK ,CTSS,CTSH,CTSL,CTSZ |
| MECHANISM | Release of an Nterminal dipeptide, XaaYaa|Zaa, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Teeth ,Skin,Nervous System |
| ENZYME LOCATION | OD |
| UniProt ID | P53634 |
