| RareLSD_Id | 1023 |
| ENZYME | Beta Mannosidase |
| GENE | MANBA |
| E.C.NUMBER | 3.2.1.25 |
| FAMILY | GH2 |
| CYTOGENETICS | 4q24 |
| DISEASE | Lysosomal beta-mannosidosis |
| SNP | rs1054029,rs1054037,rs113584126,rs116340501,c.563_572dupTTAGTTGGGA,rs890870104,rs121434334,rs771587242,rs121434335, MANBA, IVS-AS, A-G, -2 |
| DEPOSIT | (di)saccharides |
| REF | 21873635, 20364138, 17899454, 19728872, 20332099 |
| TEMP (in Celsius) | 37 |
| pI | NA |
| pH | 4.2 |
| Catalytic Nucleophile | Glu537 |
Catalytic Acid/Base
| Glu461 |
| Substrate | 4-methylumbelliferyl+ beta-D-mannoside + H2O |
| Product | 4-methylumbelliferone + beta-D-mannose |
| Structure(PDB/Phyre2_ID) | 5N6U |
| kM | 0.13 |
| DRUG | NA |
| SEQ LENGTH | 879 |
| AA SEQ | MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFSDNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY |
| MODIFICATION | N-linked Glycosylation:Asn28,Asn35,Asn77,Asn280,Asn284,Asn297,Asn302,Asn763 |
| INHIBITOR | Ag+,Co2+,Cu2+,D-mannosamine,dimethyl sulfoxide,dimethylformamide,ethanol,iodoacetate,Pb2+,Sodium dodecyl sulfate,Zn2+ |
| ACTIVE SITE RESIDUE | Glu457 |
| DISULPHIDE BRIDGES | NA |
| PSEUDOGENES | NA |
| MISCELLANEOUS | NA |
| PARALOGS | NA |
| MECHANISM | Koshland double-displacement mechanism |
| INHERITANCE PATTERN | Autosomal recessive |
| ORGAN AFFECTED | Liver, Kidney, Spleen,Eye |
| ENZYME LOCATION | NMBH |
| UniProt ID | O00462 |
