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Article

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

Nature genetics - 1 Jun 2003

Zhang Bin, Cunningham Michael A, Nichols William C, Bernat John A, Seligsohn Uri, Pipe Steven W, McVey John H, Schulte-Overberg Ursula, de Bosch Norma B, Ruiz-Saez Arlette, White Gilbert C, Tuddenham E G D, Kaufman Randal J, Ginsburg David

Abstract excerpt

Mutations in LMAN1 (also called ERGIC-53) result in combined deficiency of factor V and factor VIII (F5F8D), an autosomal recessive bleeding disorder characterized by coordinate reduction of both clotting proteins. LMAN1 is a mannose-binding type 1 transmembrane protein localized to the endoplasmic reticulum-Golgi intermediate compartment (ERGIC; refs. 2,3), suggesting that F5F8D could result from a defect in...

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Source

Identifiers

PMID: 12717434
DOI: 10.1038/ng1153

Genes

LMAN1
MCFD2

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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Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.PMID 12717434Read ↗

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

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

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

Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).Semantic proximity Read ↗

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

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

Altered phenotype in LMAN1-deficient mice with low levels of residual LMAN1 expression.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 ↗

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

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