ABCD1

ABCD1 is a gene in humans that encodes the ATP-binding cassette sub-family D member 1 protein, also known as the ALD protein. This protein is a member of the ATP-binding cassette (ABC) transporter superfamily. ABCD1 is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. Mutations in the ABCD1 gene are associated with adrenoleukodystrophy, a fatal neurodegenerative disorder affecting the adrenal cortex and the white matter of the nervous system.

Function

The ABCD1 protein is involved in the active transport of various molecules across the extra- and intra-cellular membranes. The exact function of ABCD1 is not fully understood, but it is known to be critical for the normal functioning of peroxisomes, which are small structures within cells that break down fatty acids and other substances.

Clinical significance

Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy (X-ALD), a rare and often severe genetic disorder that primarily affects males. X-ALD is characterized by progressive neurologic dysfunction, adrenal insufficiency, and in some cases, skin disease. There are several forms of X-ALD, which can vary widely in their features and severity.

See also

• ATP-binding cassette transporter
• Adrenoleukodystrophy
• Peroxisome

External links

• ABCD1 at the US National Library of Medicine Medical Subject Headings (MeSH)

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