GLT-1

GANAB

GANAB is a gene that encodes the alpha subunit of the enzyme glucosidase II, which is involved in the processing of N-linked glycoproteins. This enzyme is crucial in the maturation of glycoproteins within the endoplasmic reticulum (ER) of eukaryotic cells.

Function

The GANAB gene provides instructions for making the alpha subunit of glucosidase II, an enzyme that plays a critical role in the quality control system of glycoprotein folding. Glucosidase II is responsible for trimming glucose residues from N-linked glycans on newly synthesized glycoproteins. This trimming is essential for the proper folding and maturation of glycoproteins, which are then transported to their final destinations within or outside the cell.

The enzyme glucosidase II is a heterodimer, consisting of an alpha and a beta subunit. The alpha subunit, encoded by GANAB, contains the catalytic site of the enzyme, while the beta subunit is involved in substrate recognition and binding.

Clinical Significance

Mutations in the GANAB gene have been associated with polycystic liver disease (PCLD) and autosomal dominant polycystic kidney disease (ADPKD). These conditions are characterized by the development of numerous cysts in the liver and kidneys, respectively, which can lead to organ dysfunction over time.

Research has shown that GANAB mutations can disrupt the normal function of glucosidase II, leading to improper glycoprotein folding and trafficking. This disruption can contribute to the pathogenesis of cystic diseases by affecting the cellular processes that regulate cell proliferation and fluid secretion.

Research and Studies

Recent studies have focused on understanding the molecular mechanisms by which GANAB mutations lead to cystic diseases. Researchers are investigating potential therapeutic strategies that target the glycoprotein processing pathway to alleviate symptoms or slow the progression of these diseases.

Genetic Information

The GANAB gene is located on chromosome 11 in humans. It is expressed in various tissues, with particularly high expression in the liver and kidneys, which correlates with the clinical manifestations of diseases associated with GANAB mutations.

Interactions

GANAB interacts with several other proteins involved in the glycoprotein folding and quality control pathways. These interactions are crucial for maintaining the efficiency and fidelity of protein processing in the ER.

Also see

• Endoplasmic reticulum
• Glycoprotein
• Polycystic liver disease
• Autosomal dominant polycystic kidney disease
• Protein folding