Title : A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Pub. Date : 2021 May 19

PMID : 34069712

1 Functional Relationships(s)
Compound Name
Protein Name
1 The disease is caused by defects in the gene for the adenosine triphosphate (ATP)-binding cassette protein, subfamily D (ABCD1) that encodes the peroxisomal transporter of very-long-chain fatty acids (VLCFAs). Fatty Acids ATP binding cassette subfamily D member 1 Homo sapiens