Variants & Biochemistry

This section contains The ABCD1 Variant Database, a catalog of the >1040 unique variants in the ABCD1 gene. It provides info on the underlying genetics (gene info, non-coding pseudogenes), the effect of pathogenic missense variants on the stability of the ALD protein, the biochemistry of ALD and the function of ALDP.

Last modified | 2022-09-14