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P05546 Proteins with OtherRepeats Repeats
Uniprot ID: P05546
Protein name : Heparin cofactor 2
Gene : SERPIND1 HCF2
Protein Families : Serpin family
Squence Length : 499
Sequence
>P05546 500 MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQLNNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYLDLEKIFSEDDDYIDIVDSLSVSPTDSDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGISTAMGMISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLFRRNFGYTLRSVNDLYIQKQFPILLDFKTKVREYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENIDPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRLNEREVVKVSMMQTKGNFLAANDQELDCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKLEKNYNLVESLKLMGIRMLFDKNGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTVGFMPLSTQVRFTVDRPFLFLIYEHRTSCLLFMGRVANPSRS
Repeat regions
REPEAT 73 83 1 REPEAT 87 97 2
Sequence region of repeats
73- 83 EDDDYLDLEKI 87- 97 DDDYIDIVDSL
Function
"Thrombin inhibitor activated by the glycosaminoglycans, heparin or dermatan sulfate. In the presence of the latter, HC-II becomes the predominant thrombin inhibitor in place of antithrombin III (AT-III). Also inhibits chymotrypsin, but in a glycosaminoglycan-independent manner.; Peptides at the N-terminal of HC-II have chemotactic activity for both monocytes and neutrophils"
Mutation
122 122 R->L: Normal thrombin inhibition and glycosaminoglycan affinity 122 122 R->Q: Greatly reduced thrombin inhibition 122 122 R->W: Greatly reduced thrombin inhibition 204 204 K->M: Reduced heparin- and no dermatan sulfate-activated inhibition 204 204 K->N: Reduced heparin- and no dermatan sulfate-activated inhibition 204 204 K->T: Reduced heparin- and no dermatan sulfate-activated inhibition
Disease
DISEASE: Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356]: A hemostatic disorder characterized by a tendency to recurrent thrombosis Note=The disease is caused by mutations affecting the gene represented in this entry