1-Acylglycerol-3-Phosphate O-Acyltransferase ABHD5
Das ABHD5-Gen kodiert ein Enzym des Triglyceridstoffwechsels. Mutationen führen zur autosomal rezessiven Triglyzerid-Speicherkrankheit Chanarin-Dorfman-Syndrome, die mit Ichtiosis einhergeht.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020