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Article

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

Blood - 22 Sept 2011

Zhang Bin, Zheng Chunlei, Zhu Min, Tao Jiayi, Vasievich Matthew P, Baines Andrea, Kim Jinoh, Schekman Randy, Kaufman Randal J, Ginsburg David

Abstract excerpt

The type 1-transmembrane protein LMAN1 (ERGIC-53) forms a complex with the soluble protein MCFD2 and cycles between the endoplasmic reticulum (ER) and the ER-Golgi intermediate compartment (ERGIC). Mutations in either LMAN1 or MCFD2 cause the combined deficiency of factor V (FV) and factor VIII (FVIII; F5F8D), suggesting an ER-to-Golgi cargo receptor function for the LMAN1-MCFD2 complex. Here we report the...

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Share to alpha 1-Antitrypsin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Endoplasmic Reticulum Chaperone BiP

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Source

Open in PubMed Open full text

Identifiers

PMID: 21795745
DOI: 10.1182/blood-2011-05-352815
PMCID: PMC3179404

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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Research trail→

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Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin.PMID 21795745Read ↗

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

Murine coagulation factor VIII is synthesized in endothelial cellsSemantic 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 ↗

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

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.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 ↗

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

Mouse Models of Human Proprotein Convertase InsufficiencySemantic proximity Read ↗

Mutant Lrp1 knock-in mice generated by recombinase-mediated cassette exchange reveal differential importance of the NPXY motifs in the intracellular domain of LRP1 for normal fetal development.Semantic proximity Read ↗

A synonymous mutation in LMAN1 creates an ectopic splice donor site and causes combined deficiency of FV and FVIII.Semantic proximity Read ↗

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