Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.
L Singer, WT Whitehead, H Akama, Y Katz… - Journal of Biological …, 1994 - ASBMB
We recently described a case of hereditary complement C3 deficiency (C3D) in a New
Zealand male who has a small amount of serum C3 (7 micrograms/ml), a normal size 5.2-
kilobase C3 mRNA that is present in normal quantities, and a normal size M (r) 180,000
proC3 molecule that is synthesized in normal amounts. Secretion of C3 from this patient's
cells was greatly diminished, however, and an aberrant C3 trypsin cleavage profile indicated
an abnormality in the proC3 structure. To determine the primary structure of the C3D proC3 …
Zealand male who has a small amount of serum C3 (7 micrograms/ml), a normal size 5.2-
kilobase C3 mRNA that is present in normal quantities, and a normal size M (r) 180,000
proC3 molecule that is synthesized in normal amounts. Secretion of C3 from this patient's
cells was greatly diminished, however, and an aberrant C3 trypsin cleavage profile indicated
an abnormality in the proC3 structure. To determine the primary structure of the C3D proC3 …