Hereditary angioedema

Gene Information

Names

HUGO name: SERPING1

Alias(es):

  • C1-INH
  • C1IN
  • C1NH
  • complement component 1 inhibitor (angioedema, hereditary)
  • Plasma protease C1 inhibitor precursor (C1 Inh) (C1Inh)

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Activation of the C1 complex is under control of the C1-inhibitor. It forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May play a potentially crucial role in regulating important physiological pathways including complement activation, blood coagulation, fibrinolysis and the generation of kinins.

Subcellular location:

Secreted

Post-translational modification:

Highly glycosylated (49%).

Polymorphism:

There are two alleles.

Expression

Expression pattern for human

Tissue Expression (%) Clones
adipose, white adipose 7.78 1:268
nose, olfactory epithelium 5.59 3:1119
dorsal root ganglia 5.57 4:1496
human eye anterior segment 5.26 5:1981
testis, epididymus 4.41 2:945
adipose, white adipose tissue 4.21 2:990
uterus, endometrium 3.48 3:1796
brain, miningioma 2.94 1:709
pheochromocytoma 2.66 2:1569
prostate, broad spectrum prostate tumors 2.54 1:821