Mutations & Biochemistry

Mutations and Variants in ABCD1

The ALD Mutation Database reports all mutations and variations conform to the nomenclature recommended by the Human Genome Variation Society.... [...]

Large deletions

Deletions of one or more exons Variant Reference Combined deletion of BCAP31 and ABCD1 “Contiguous ABCD1 DXS1357E deletion syndrome” (CADDS).... [...]

Mutation statistics

Statistics of ABCD1 mutations and variants All Mutations Non-recurrent Mutations N % N % All ALD mutations in database 3151... [...]

Pseudogenes & Mutation analysis

Pseudogenes of ABCD1 and the importance for genetic analysis Stephan Kemp, Ph.D Mutational analysis of the ABCD1 gene has the... [...]

Mutations & ALD Protein Stability

Johannes Berger, Ph.D. and Stephan Kemp, Ph.D The effect of missense mutations on ALDP stability This picture shows a hypothetical... [...]

ALDP orthologs

Alignment of ALDP proteins in different species Go to alignment [...]

ABCD proteins

Stephan Kemp, Ph.D. The ABC protein family ATP-binding cassette (ABC) proteins form the largest family of transmembrane proteins. They are... [...]

Very long-chain fatty acids

Stephan Kemp, Ph.D. and Paul Watkins, M.D., Ph.D. From a biochemical standpoint, what is the problem in ALD/AMN? In patients... [...]

Origin and Metabolism of VLCFA

Stephan Kemp, Ph.D. VLCFA metabolism Adrenoleukodystrophy is characterized by the inability of cells to metabolize/degrade VLCFA to shorter-chain fatty acids.... [...]

Biochemical defect

Stephan Kemp, Ph.D. The biochemical defect in ALD By the early 1970’s, twelve fully documented clinical reports were available describing... [...]