Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.

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Article

Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion.

The Journal of biological chemistry - 11 Nov 1994

Singer L, Whitehead W T, Akama H, Katz Y, Fishelson Z, Wetsel R A

Abstract excerpt

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 norma...

Topics

Alleles
Amino Acid Sequence
Animals
Asparagine
Aspartic Acid
Base Sequence
Complement C3
DNA
DNA Primers
Female
Fibroblasts
Gene Library
Humans
L Cells
Male
Mice
Molecular Sequence Data
Molecular Weight

Source

Open in PubMed

Identifiers

PMID: 7961791

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7961791-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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