Details of RareLSD ID 1050 |
RareLSD_Id | 1050 |
ENZYME | Myeloperoxidase |
GENE | MPO |
E.C.NUMBER | 1.11.2.2 |
FAMILY | Peroxidase |
CYTOGENETICS | 17q22 |
DISEASE | Myeloperoxidase deficiency |
SNP | rs119468010,rs119469012,rs119469013,rs119469014,rs28730837 . |
DEPOSIT | NA |
REF | 19544176, 19651119, 17479404 |
TEMP (in Celsius) | 37 |
pI | NA |
pH | 4.7 - 6 |
Catalytic Nucleophile | NA |
Catalytic Acid/Base | His261 |
Substrate | donor + H2O2 |
Product | oxidized donor + H2O |
Structure(PDB/Phyre2_ID) | 5FIW |
kM | NA |
DRUG | Carnosine,Melatonin,2-Phenylacetamide,4-Coumaryl alcohol,Calcium,Cyanosulfurous acid anion,Formaldehyde,Heme,Hydrogen peroxide,Hypothiocyanite |
SEQ LENGTH | 745 |
AA SEQ | MGVPFFSSLRCMVDLGPCWAGGLTAEMKLLLALAGLLAILATPQPSEGAAPAVLGEVDTSLVLSSMEEAKQLVDKAYKERRESIKQRLRSGSASPMELLSYFKQPVAATRTAVRAADYLHVALDLLERKLRSLWRRPFNVTDVLTPAQLNVLSKSSGCAYQDVGVTCPEQDKYRTITGMCNNRRSPTLGASNRAFVRWLPAEYEDGFSLPYGWTPGVKRNGFPVALARAVSNEIVRFPTDQLTPDQERSLMFMQWGQLLDHDLDFTPEPAARASFVTGVNCETSCVQQPPCFPLKIPPNDPRIKNQADCIPFFRSCPACPGSNITIRNQINALTSFVDASMVYGSEEPLARNLRNMSNQLGLLAVNQRFQDNGRALLPFDNLHDDPCLLTNRSARIPCFLAGDTRSSEMPELTSMHTLLLREHNRLATELKSLNPRWDGERLYQEARKIVGAMVQIITYRDYLPLVLGPTAMRKYLPTYRSYNDSVDPRIANVFTNAFRYGHTLIQPFMFRLDNRYQPMEPNPRVPLSRVFFASWRVVLEGGIDPILRGLMATPAKLNRQNQIAVDEIRERLFEQVMRIGLDLPALNMQRSRDHGLPGYNAWRRFCGLPQPETVGQLGTVLRNLKLARKLMEQYGTPNNIDIWMGGVSEPLKRKGRVGPLLACIIGTQFRKLRDGDRFWWENEGVFSMQQRQALAQISLPRIICDNTGITTVSKNNIFMSNSYPRDFVNCSTLPALNLASWREAS |
MODIFICATION | N-linked Glycosylation:Asn139,Asn316,Asn323,Asn391,Asn483,Asn729 |
INHIBITOR | 4'amino4fluorochalcone,5thio2nitrobenzoic acid,Aminotriazole dityrosine,kaempferol7Orhamnoside,serotonin,Sulfide,Q3GA |
ACTIVE SITE RESIDUE | His261 |
DISULPHIDE BRIDGES | *167-180,*281-291,*285-309,*387-398,*606-663,*704-730 |
PSEUDOGENES | NA |
MISCELLANEOUS | NA |
PARALOGS | LPO,TPO,EPX,PXDNL,PXDN |
MECHANISM | Cl + H2O2 + H+ = HClO + H2O |
INHERITANCE PATTERN | Autosomal recessive |
ORGAN AFFECTED | Nervous System,Skin |
ENZYME LOCATION | OD |
UniProt ID | P05164 |