LMAN1

Chr 18AR

lectin, mannose binding 1

Also known as: ERGIC-53, ERGIC53, F5F8D, FMFD1, MCFD1, MR60, gp58

NCBI Gene: 3998 ENSG00000074695 UniProt: P49257 OMIM: 601567

The encoded protein is a mannose-specific lectin that functions as a cargo receptor for glycoprotein transport between the endoplasmic reticulum and Golgi apparatus. Mutations cause combined factor V and VIII deficiency, an autosomal recessive bleeding disorder. The gene is not highly constrained (low pLI), consistent with recessive inheritance where heterozygous carriers are typically unaffected.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Combined factor V and VIII deficiencyMIM #227300

UniProtFactor V and factor VIII combined deficiency 1

Clinical highlights

Gene-disease validity (ClinGen)

factor V and factor VIII, combined deficiency of, type 1 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.55

LOEUF

Mechanism· predicted

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GeneReview available — LMAN1

Authoritative clinical overview · Recommended first read