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Article

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Blood - 1 Mar 2006

Zhang Bin, McGee Beth, Yamaoka Jennifer S, Guglielmone Hugo, Downes Katharine A, Minoldo Salvador, Jarchum Gustavo, Peyvandi Flora, de Bosch Norma B, Ruiz-Saez Arlette, Chatelain Bernard, Olpinski Marian, Bockenstedt Paula, Sperl Wolfgang, Kaufman Randal J, Nichols William C, Tuddenham Edward G D, Ginsburg David

Abstract excerpt

Mutations in LMAN1 (ERGIC-53) or MCFD2 cause combined deficiency of factor V and factor VIII (F5F8D). LMAN1 and MCFD2 form a protein complex that functions as a cargo receptor ferrying FV and FVIII from the endoplasmic reticulum to the Golgi. In this study, we analyzed 10 previously reported and 10 new F5F8D families. Mutations in the LMAN1 or MCFD2 genes accounted for 15 of these families, including 3 alleles...

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Source

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Identifiers

PMID: 16304051
DOI: 10.1182/blood-2005-09-3620
PMCID: PMC1895703

Genes

LMAN1
MCFD2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.PMID 16304051Read ↗

Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.Semantic proximity Read ↗

Separate roles of LMAN1 and MCFD2 in ER-to-Golgi trafficking of factor V and factor VIIISemantic proximity Read ↗

Recent developments in the understanding of the combined deficiency of FV and FVIII.Semantic proximity Read ↗

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.Semantic proximity Read ↗

Combined deficiency of coagulation factors V and VIII: an update.Semantic proximity Read ↗

Mutations in the MCFD2 gene are predominant among patients with hereditary combined FV and FVIII deficiency (F5F8D) in India.Semantic proximity Read ↗

Combined Factor V and Factor VIII Deficiency.Semantic proximity Read ↗

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.Semantic proximity Read ↗

Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII.Semantic proximity Read ↗

Molecular basis of LMAN1 in coordinating LMAN1-MCFD2 cargo receptor formation and ER-to-Golgi transport of FV/FVIII.Semantic proximity Read ↗

Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin.Semantic proximity Read ↗

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