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Details of RareLSD ID 1023

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