Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency

Combined factor V and factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder. F5F8D is genetically linked to mutations in the transmembrane lectin ERGIC-53 and its soluble interaction partner MCFD2. The ERGIC-53/MCFD2 protein complex functions as transport receptor of coa...

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Bibliographic Details
Published in:	Blood Vol. 111; no. 3; p. 1299
Main Authors:	Nyfeler, Beat, Kamiya, Yukiko, Boehlen, Françoise, Yamamoto, Kazuo, Kato, Koichi, de Moerloose, Philippe, Hauri, Hans-Peter, Neerman-Arbez, Marguerite
Format:	Journal Article
Language:	English
Published:	United States 01.02.2008
Subjects:	Amino Acid Sequence Child Factor V Deficiency - genetics Factor V Deficiency - metabolism Female Gene Deletion Hemophilia A - genetics Hemophilia A - metabolism Humans Male Mannose-Binding Lectins - metabolism Membrane Proteins - metabolism Molecular Sequence Data Protein Binding Vesicular Transport Proteins - chemistry Vesicular Transport Proteins - genetics Vesicular Transport Proteins - metabolism
ISSN:	0006-4971
Online Access:	Get more information
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