Gene Symbol | LMAN1 |
Entrez Gene ID | 3998 |
Full Name | lectin, mannose binding 1 |
Synonyms | ERGIC-53,ERGIC53,F5F8D,FMFD1,MCFD1,MR60,gp58 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Combined factor V and VIII deficiency, 227300 (3) |