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'''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.

[[Category:Genes]]
[[Category:Genetic disorders]]
[[Category:Medical genetics]]
[[Category:Human proteins]]

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ABCD3 - Revision history

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