Gene Locus : human-ABHD5
Mode of mutation : Natural mutant
Disease : Chanarin-Dorfman syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : NOVEMBER-15-2006
Comment :
p.H82R His82Arg c.245A>G. A 42-year old patient with muscle weakness genital ichthyosiform erythroderma hearing loss bilateral subcapsular cataract. Compound heterozygote for p.H82R and p.R234X
| Title : Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease - |
| Author(s) : Schleinitz N , Fischer J , Sanchez A , Veit V , Harle JR , Pelissier JF |
| Ref : Arch Dermatol , 141 :798 , 2005 |
| PubMedID: 15967942 |
| Gene_locus related to this paper: human-ABHD5 |