Gene: LMAN1

Alternate names for this Gene: ERGIC-53|ERGIC53|F5F8D|FMFD1|MCFD1|MR60|gp58

Gene 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.32

Description of this Gene: lectin, mannose binding 1

Type of Gene: protein-coding