Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

ABSTRACT:

Background

The ATP-binding cassette, subfamily D, member 1 (ABCD1) protein is a peroxisomal half-transporter that allows for very long chain fatty acid (VLCFA) degradation. Pathogenic variants of ABCD1 cause VLCFAs to build up in various tissues and bodily fluids, resulting in a disorder called X-linked adrenoleukodystrophy (X-ALD). This disorder is most commonly marked by adrenocortical insufficiency and high VLCFA concentration, and has varying levels of neurological involvement depending on phenotype. For example, the Addison-only form of X-ALD has no neurological impact, while the cerebral form of X-ALD often causes severe sensory loss, motor function impairment, cognitive decline, and death.

Methods

A newly characterized and suspected pathogenic variant in ABC

SUBMITTER: Richter JE 

PROVIDER: S-EPMC7003284 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature