Gene: VPS4A

Alternate names for this Gene: SKD1|SKD1A|SKD2|VPS4|VPS4-1

Gene Summary: The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: vacuolar protein sorting 4 homolog A

Type of Gene: protein-coding

Gene: COG8

Alternate names for this Gene: CDG2H|DOR1

Gene Summary: This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: component of oligomeric golgi complex 8

Type of Gene: protein-coding