Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ABHD5 gene encodes an enzyme involved in lipid metabolism, so mutation of this gene cause autosomal recessive triglyceride storage disease Chanarin-Dorfman syndrome which is associated with ichtiosis.
| Research | 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. |
Lefèvre C et al. (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. 
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| 2. |
Lai CH et al. (2000) Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
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| 3. |
Yamaguchi T et al. (2004) CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome.
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| 4. |
Ghosh AK et al. (2008) CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
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| 5. |
Radner FP et al. (2010) Growth retardation, impaired triacylglycerol catabolism, hepatic steatosis, and lethal skin barrier defect in mice lacking comparative gene identification-58 (CGI-58).
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| 6. |
Wang H et al. (2011) Unique regulation of adipose triglyceride lipase (ATGL) by perilipin 5, a lipid droplet-associated protein.
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| 7. |
NCBI article NCBI 51099
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| 8. |
OMIM.ORG article Omim 604780
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| 9. |
Orphanet article Orphanet ID 117687
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| 10. |
Wikipedia article Wikipedia EN (ABHD5)
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