Aliases for LMAN1 Gene
External Ids for LMAN1 Gene
Previous HGNC Symbols for LMAN1 Gene
Previous GeneCards Identifiers for LMAN1 Gene
The protein encoded by this gene is a type I integral membrane protein localized in the intermediate region between the endoplasmic reticulum and the Golgi, presumably recycling between the two compartments. The protein is a mannose-specific lectin and is a member of a novel family of plant lectin homologs in the secretory pathway of animal cells. Mutations in the gene are associated with a coagulation defect. Using positional cloning, the gene was identified as the disease gene leading to combined factor V-factor VIII deficiency, a rare, autosomal recessive disorder in which both coagulation factors V and VIII are diminished. [provided by RefSeq, Jul 2008]
GeneCards Summary for LMAN1 Gene
LMAN1 (Lectin, Mannose-Binding, 1) is a Protein Coding gene. Diseases associated with LMAN1 include combined factor v and viii deficiency and factor v and factor viii, combined deficiency of. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include unfolded protein binding and mannose binding. An important paralog of this gene is LMAN2.
UniProtKB/Swiss-Prot for LMAN1 Gene
Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.