Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ABCD4 gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive Methylmalonic aciduria and homocystinuria cblJ.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Coelho D et al. (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 
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| 2. |
Holzinger A et al. (1997) Primary structure of human PMP69, a putative peroxisomal ABC-transporter.
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| 3. |
Shani N et al. (1997) Identification of a fourth half ABC transporter in the human peroxisomal membrane.
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| 4. |
Holzinger A et al. (1998) Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.
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| 5. |
Asheuer M et al. (2005) Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
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| 6. |
Orphanet article Orphanet ID 315413
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| 7. |
NCBI article NCBI 5826
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| 8. |
OMIM.ORG article Omim 603214
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| 9. |
Wikipedia article Wikipedia EN (ABCD4)
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