Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1037 |
| RareLSD_Id | 1037 |
| ENZYME | Dicetylchitobiase |
| GENE | CTBS |
| E.C.NUMBER | 3.4.22.1 |
| FAMILY | GH18 |
| CYTOGENETICS | 1-p22.3 |
| DISEASE | Focal Hand Dystonia,Hypomyeliting Leukodystrophy |
| SNP | rs748590400,rs1000014976,rs1000089744,rs1000104175,rs1000148485 |
| DEPOSIT | glycoproteins |
| REF | 19930869 , 1637335, 8112600 |
| TEMP (in Celsius) | 0 |
| pI | NA |
| pH | NA |
| Catalytic Nucleophile | carbonyl oxygen of the substrate |
| Catalytic Acid/Base | Glu/Asp |
| Substrate | NA |
| Product | NA |
| Structure(PDB/Phyre2_ID) | c5zl9A |
| kM | NA |
| DRUG | NA |
| SEQ LENGTH | 385 |
| AA SEQ | MSRPQLRRWRLVSSPPSGVPGLALLALLALLALRLAAGTDCPCPEPELCRPIRHHPDFEVFVFDVGQKTWKSYDWSQITTVATFGKYDSELMCYAHSKGARVVLKGDVSLKDIIDPAFRASWIAQKLNLAKTQYMDGINIDIEQEVNCLSPEYDALTALVKETTDSFHREIEGSQVTFDVAWSPKNIDRRCYNYTGIADACDFLFVMSYDEQSQIWSECIAAANAPYNQTLTGYNDYIKMSINPKKLVMGVPWYGYDYTCLNLSEDHVCTIAKVPFRGAPCSDAAGRQVPYKTIMKQINSSISGNLWDKDQRAPYYNYKDPAGHFHQVWYDNPQSISLKATYIQNYRLRGIGMWNANCLDYSGDAVAKQQTEEMWEVLKPKLLQR |
| MODIFICATION | N-linked Glycosylation:Asn228,Asn262,Asn299 |
| INHIBITOR | NA |
| ACTIVE SITE RESIDUE | Glu143 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | Double displacement reaction mechanism with neighbouring group participation |
| INHERITANCE PATTERN | NA |
| ORGAN AFFECTED | Nervous System,Eye,Muscle |
| ENZYME LOCATION | OD |
| UniProt ID | Q01459 |