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Mammalian protein found in humans
esterase inhibitor) is a protease inhibitor that in humans is encoded by the SERPING1 gene. Its main function is the inhibition of the complement system (C1r
SERPING1
Disorder resulting in severe swelling
three main types of HAE. Types I and II are caused by a mutation in the SERPING1 gene, which encodes the C1 inhibitor protein, and type III, now called
Hereditary_angioedema
Disease characterized by rapid swelling
underlying genetic abnormality. Types I and II are caused by mutations in the SERPING1 gene, which result in either diminished levels of the C1-inhibitor protein
Angioedema
Vision loss due to damage to the macula of the eye
a secreted serine protease), was identified. Six mutations of the gene SERPING1 (Serpin Peptidase Inhibitor, Clade G (C1 Inhibitor), Member 1) are associated
Macular_degeneration
Experimental gene therapy
angioedema, delivered by adeno-associated virus type 5 and targeting the SERPING1 gene. Betschel, Stephen D.; Banerji, Aleena; Busse, Paula J.; Cohn, Danny
BMN_331
14600 SERPINF1 HGNC:8824; P36955 14601 SERPINF2 HGNC:9075; P08697 14602 SERPING1 HGNC:1228; P05155 14603 SERPINH1 HGNC:1546; P50454 14604 SERPINI1 HGNC:8943;
List of human protein-coding genes 7
List_of_human_protein-coding_genes_7
Protein-coding gene in the species Homo sapiens
A, Chen X, Macleod A, et al. (November 2008). "Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study"
MASP1
Superfamily of proteins with similar structures and diverse functions
disorder. Deficiency causes a rare bleeding disorder. 17pter-p12 2R9Y SERPING1 Complement 1-inhibitor Extracellular Inhibitor of C1 esterase. Several
Serpin
Protein found in humans
Ennis S, Jomary C, Mullins R, et al. (2008). "Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study"
Complement_component_6
Medical condition
and include increased expression of complement related genes (C1QB, C2, SERPING1), interleukin-1-related genes (interleukin-1β, interleukin 1 RN, CASP1
Periodic fever, aphthous stomatitis, pharyngitis and adenitis
Periodic_fever,_aphthous_stomatitis,_pharyngitis_and_adenitis
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