Variants & Biochemistry

Variants in ABCD1

The ABCD1 Variant Database reports all variants in accordance with the nomenclature recommended by the Human Genome Variation Society. All... [...]

Large deletions

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

Variant statistics

Statistics of ABCD1 variants All variants/cases pathogenic likely pathogenic VUS likely benign benign sum % missense variants 2023 170 518... [...]

Pseudogenes & Genetic Testing

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

Pathogenic variants & ALD Protein Stability

Johannes Berger, Ph.D. and Stephan Kemp, Ph.D The effect of missense (likely) pathogenic variants on ALDP stability This picture shows... [...]

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... [...]