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Details of RareLSD ID 1050
RareLSD_Id1050
ENZYMEMyeloperoxidase
GENEMPO
E.C.NUMBER1.11.2.2
FAMILYPeroxidase
CYTOGENETICS17q22
DISEASEMyeloperoxidase deficiency
SNPrs119468010,rs119469012,rs119469013,rs119469014,rs28730837 .
DEPOSITNA
REF19544176, 19651119, 17479404
TEMP (in Celsius)37
pINA
pH4.7 - 6
Catalytic NucleophileNA
Catalytic Acid/Base
His261
Substratedonor + H2O2
Productoxidized donor + H2O
Structure(PDB/Phyre2_ID)5FIW
kMNA
DRUGCarnosine,Melatonin,2-Phenylacetamide,4-Coumaryl alcohol,Calcium,Cyanosulfurous acid anion,Formaldehyde,Heme,Hydrogen peroxide,Hypothiocyanite
SEQ LENGTH745
AA SEQMGVPFFSSLRCMVDLGPCWAGGLTAEMKLLLALAGLLAILATPQPSEGAAPAVLGEVDTSLVLSSMEEAKQLVDKAYKERRESIKQRLRSGSASPMELLSYFKQPVAATRTAVRAADYLHVALDLLERKLRSLWRRPFNVTDVLTPAQLNVLSKSSGCAYQDVGVTCPEQDKYRTITGMCNNRRSPTLGASNRAFVRWLPAEYEDGFSLPYGWTPGVKRNGFPVALARAVSNEIVRFPTDQLTPDQERSLMFMQWGQLLDHDLDFTPEPAARASFVTGVNCETSCVQQPPCFPLKIPPNDPRIKNQADCIPFFRSCPACPGSNITIRNQINALTSFVDASMVYGSEEPLARNLRNMSNQLGLLAVNQRFQDNGRALLPFDNLHDDPCLLTNRSARIPCFLAGDTRSSEMPELTSMHTLLLREHNRLATELKSLNPRWDGERLYQEARKIVGAMVQIITYRDYLPLVLGPTAMRKYLPTYRSYNDSVDPRIANVFTNAFRYGHTLIQPFMFRLDNRYQPMEPNPRVPLSRVFFASWRVVLEGGIDPILRGLMATPAKLNRQNQIAVDEIRERLFEQVMRIGLDLPALNMQRSRDHGLPGYNAWRRFCGLPQPETVGQLGTVLRNLKLARKLMEQYGTPNNIDIWMGGVSEPLKRKGRVGPLLACIIGTQFRKLRDGDRFWWENEGVFSMQQRQALAQISLPRIICDNTGITTVSKNNIFMSNSYPRDFVNCSTLPALNLASWREAS
MODIFICATIONN-linked Glycosylation:Asn139,Asn316,Asn323,Asn391,Asn483,Asn729
INHIBITOR4'amino4fluorochalcone,5thio2nitrobenzoic acid,Aminotriazole dityrosine,kaempferol7Orhamnoside,serotonin,Sulfide,Q3GA
ACTIVE SITE RESIDUEHis261
DISULPHIDE BRIDGES*167-180,*281-291,*285-309,*387-398,*606-663,*704-730
PSEUDOGENESNA
MISCELLANEOUSNA
PARALOGSLPO,TPO,EPX,PXDNL,PXDN
MECHANISMCl + H2O2 + H+ = HClO + H2O
INHERITANCE PATTERNAutosomal recessive
ORGAN AFFECTEDNervous System,Skin
ENZYME LOCATIONOD
UniProt IDP05164