{"symbol":"LMAN1","synonyms":["MR60","GP58","FMFD1","ERGIC-53","ERGIC53","F5F8D","MCFD1"],"name":"lectin, mannose-binding, 1","description":"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]","ncbiEntrezGeneId":3998,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/3998","proteins":[{"symbol":"LMAN1_HUMAN","href":"/api/1.0/protein/LMAN1_HUMAN"}],"hgncRootFamilies":[]}