Functional characterization of a SNP (F51S) found in human alpha 1-antitrypsin.

ABSTRACT:

Background

Alpha 1-antitrypsin (A1AT) deficiency is related to lung and liver diseases, including pulmonary emphysema and liver cirrhosis in humans. Genetic variations including single nucleotide polymorphisms (SNPs) of SERPINA1 are responsible for A1AT deficiency, but the characteristics of the SNPs are not well-understood. Here, we investigated the features of a rare SNP (F51S) of A1AT, which introduces an additional N-glycosylation site in the N-terminal region of A1AT.

Methods

We evaluated the F51S variant compared with the wild-type (WT) A1AT with regard to expression in CHO-K1 cells, trypsin inhibitory activity, polymerization, and thermal stability.

Results

The recombinant F51S protein expressed in CHO-K1 cells was mostly retained inside cells. The F51S variant

SUBMITTER: Trinh HN 

PROVIDER: S-EPMC6687665 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature