Welcome to Entry Card of Lysosomal Enzymes
Details of RareLSD ID 1047 |
| RareLSD_Id | 1047 |
| ENZYME | L-Aminoacid oxidase |
| GENE | IL4I1 |
| E.C.NUMBER | 1.4.3.2 |
| FAMILY | Flavin monoamine oxidase |
| CYTOGENETICS | 19q13.33 |
| DISEASE | Infantile Striatonigral Degeneration |
| SNP | rs121917865 |
| DEPOSIT | NA |
| REF | 10944103, 19689417 |
| TEMP (in Celsius) | 0 |
| pI | NA |
| pH | NA |
| Catalytic Nucleophile | NA |
| Catalytic Acid/Base | NA |
| Substrate | Lphenylalanine + H2O + O2 |
| Product | phenylpyruvate + NH3 + H2O2 |
| Structure(PDB/Phyre2_ID) | 1F8R |
| kM | NA |
| DRUG | NA |
| SEQ LENGTH | 567 |
| AA SEQ | MAPLALHLLVLVPILLSLVASQDWKAERSQDPFEKCMQDPDYEQLLKVVTWGLNRTLKPQRVIVVGAGVAGLVAAKVLSDAGHKVTILEADNRIGGRIFTYRDQNTGWIGELGAMRMPSSHRILHKLCQGLGLNLTKFTQYDKNTWTEVHEVKLRNYVVEKVPEKLGYALRPQEKGHSPEDIYQMALNQALKDLKALGCRKAMKKFERHTLLEYLLGEGNLSRPAVQLLGDVMSEDGFFYLSFAEALRAHSCLSDRLQYSRIVGGWDLLPRALLSSLSGLVLLNAPVVAMTQGPHDVHVQIETSPPARNLKVLKADVVLLTASGPAVKRITFSPPLPRHMQEALRRLHYVPATKVFLSFRRPFWREEHIEGGHSNTDRPSRMIFYPPPREGALLLASYTWSDAAAAFAGLSREEALRLALDDVAALHGPVVRQLWDGTGVVKRWAEDQHSQGGFVVQPPALWQTEKDDWTVPYGRIYFAGEHTAYPHGWVETAVKSALRAAIKINSRKGPASDTASPEGHASDMEGQGHVHGVASSPSHDLAKEEGSHPPVQGQLSLQNTTHTRTSH |
| MODIFICATION | N-linked Glycosylation:Asn54,Asn134,Asn220,Asn559 |
| INHIBITOR | NA |
| ACTIVE SITE RESIDUE | NA |
| DISULPHIDE BRIDGES | *36-199 |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | L-amino acid + H2O + O2 = a 2oxo acid + NH3 + H2O2. |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Nervous System,Eye, |
| ENZYME LOCATION | NA |
| UniProt ID | Q96RQ9 |