RBCC Red Blood Cell Collection

PERM_HUMAN

Source: BSc_CH
Marked as 'Non-membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: MPO
Protein names and data: PERM_HUMAN , Myeloperoxidase; MPO; 1.11.2.2; Myeloperoxidase; 89 kDa myeloperoxidase; 84 kDa myeloperoxidase; Myeloperoxidase light chain; Myeloperoxidase heavy chain; Flags: Precursor Lenght: 745 a.a.
Mass: 83869 Da
fasta formatted sequence
Function: Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity.
Catalytic activity: Cl(-) + H(2)O(2) + H(+) = HClO + H(2)O. Cl(-) + H(2)O(2) = HOCl + 2 H(2)O.
Disease: ( OMIM: 254600 606989 ) Myeloperoxidase deficiency (MPOD) [MIM:254600]: A disorder characterized by decreased myeloperoxidase activity in neutrophils and monocytes that results in disseminated candidiasis. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Lysosome.

Genetic variants

53 - 53 V -> F (in dbSNP:rs7208693). VAR_023995 7208693
173 - 173 Y -> C (in MPOD; affects proteolytic processing and secretion; dbSNP:rs78950939). VAR_015377 78950939
251 - 251 M -> T (in MPOD; dbSNP:rs56378716). VAR_015378 56378716
447 - 447 R -> Q (in a colorectal cancer sample; somatic mutation). VAR_036517
569 - 569 R -> W (in MPOD; suppress post- translational processing). VAR_015379
604 - 604 R -> C (in dbSNP:rs35670089). VAR_023996 35670089
683 - 683 E -> Q (in dbSNP:rs35702888). VAR_023997 35702888
717 - 717 I -> V (in dbSNP:rs2759). VAR_012066 2759

Database cross-references

UniProt: P05164
Ensembl: ENST00000225275
Ensembl: ENST00000340482
MIM: 254600
MIM: 606989
neXtProt: NX_P05164
Antibodypedia: P05164 (may not find the protein thus also not any antibody)
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