May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53. Predominantly found in the endoplasmic reticulum. Partly found in the Golgi. Expressed in numerous tissues. Highest expression in skeletal muscle and kidney, intermediate levels in heart, liver and placenta, low levels in brain, thymus, spleen, small intestine and lung. The disease is caused by variants affecting the gene represented in this entry.