Predicted to enable calcium ion transmembrane transporter activity and manganese ion transmembrane transporter activity. Involved in intracellular monoatomic cation homeostasis; metal ion transport; and protein N-linked glycosylation. Located in endosome membrane; lysosomal membrane; and trans-Golgi network membrane. Implicated in congenital disorder of glycosylation type IIk.
RGD Description
This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]