Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

1-acylglycerol-3-phosphate O-acyltransferase ABHD5

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.

Genetests:

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

Related Diseases:

Neutral lipid storage disease with ichtiosis
ABHD5

References:

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 [^]
8.

OMIM.ORG article

Omim 604780 [^]
9.

Orphanet article

Orphanet ID 117687 [^]
10.

Wikipedia article

Wikipedia EN (ABHD5) [^]
Update: April 29, 2019