Isolation and characterization of human apolipoprotein A-I Fukuoka (110 Glu----Lys). A novel apolipoprotein variant.
Biochim Biophys Acta
; 1043(2): 169-76, 1990 Apr 02.
Article
em En
| MEDLINE
| ID: mdl-2107878
ABSTRACT
A novel genetic variant of apolipoprotein(apo) A-I Fukuoka, has been identified in a Japanese family. This variant has a relative charge of +2 compared to normal apolipoprotein A-I (A-I4), on the isoelectric focusing gels and the same molecular mass and immunologic characteristics as normal apolipoprotein A-I. This variant, transmitted as an autosomal co-dominant inheritance was purified by preparative Immobiline isoelectric focusing. Sequence analysis after cleavage with lysyl endopeptidase and CNBr, followed by high-performance liquid chromatography revealed a single substitution of lysine at position 110, instead of the usual glutamic acid. This mutant apolipoprotein A-I has much the same potential as to activate lecithin-cholesterol acyltransferase.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Apolipoproteínas A
/
Variação Genética
/
Erros Inatos do Metabolismo Lipídico
/
Lipoproteínas HDL
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Biochim Biophys Acta
Ano de publicação:
1990
Tipo de documento:
Article
País de afiliação:
Japão