Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.D629H
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ABCD1

NM_000033.4:p.D629H

Associated Papers

Structural basis of substrate recognition and translocation by human very long-chain fatty acid transporter ABCD1.

Chen ZP et al.

Nature Communications, 2022

35676282 (PubMed )
Supplement: 41467_2022_30974_MOESM1_ESM.pdf

Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.

Dong B et al.

International Journal of Endocrinology, 2022

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.

Lotz-Havla AS et al.

Journal of Proteome Research, 2021

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

Functional characterization of the adrenoleukodystrophy protein (ALDP) and disease pathogenesis.

Gärtner J et al.

Endocrine Research, 2002

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.

Smith KD et al.

Neurochemical Research, 1999

Mutations in the adrenoleukodystrophy gene.

Dodd A et al.

Human Mutation, 1997

Altered expression of ALDP in X-linked adrenoleukodystrophy.

Watkins PA et al.

American Journal of Human Genetics, 1995

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