ABCD3

ABCD3 is a gene that encodes a protein in humans. This protein is part of the ATP-binding cassette transporter family, which is involved in the transport of various molecules across the cell membrane. Mutations in the ABCD3 gene can lead to a rare genetic disorder known as Peroxisomal Biogenesis Disorder, specifically the subtype called Infantile Refsum Disease.

Function

The ABCD3 protein is located in the peroxisome, a small organelle that is involved in the breakdown of very long-chain fatty acids. The protein is responsible for transporting these fatty acids into the peroxisome. This is a crucial step in the process of beta-oxidation, which breaks down these fatty acids to produce energy.

Clinical Significance

Mutations in the ABCD3 gene can disrupt the function of the protein, leading to a buildup of very long-chain fatty acids in the body. This can cause a variety of symptoms, including neurological problems, hearing loss, and vision loss. The severity of these symptoms can vary widely, even among individuals with the same mutation.

Diagnosis and Treatment

Diagnosis of ABCD3-related disorders is typically made through genetic testing, which can identify mutations in the ABCD3 gene. Treatment is usually supportive and aimed at managing symptoms. This can include dietary modifications to limit the intake of very long-chain fatty acids, as well as various therapies to manage neurological symptoms.

Research

Research is ongoing to better understand the function of the ABCD3 gene and its associated protein, as well as to develop more effective treatments for ABCD3-related disorders. This includes studies into the structure and function of the ABCD3 protein, as well as research into potential gene therapies.