Variant: rs28939077 

    present in Gene: ABHD5
    present in Chromosome: 3
    Position on Chromosome: 43702470
    Alleles of this Variant: A/C

rs28939077 in ABHD5 gene and Triglyceride storage disease with ichthyosis PMID 11590543 2001 Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

PMID 16679289 2006 Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.

PMID 18606822 2008 CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.

PMID 17495960 2007 A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.