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 : No news
Comment : p.Tyr250Asp c.748T>G (NM_001355186.2) homozygous missense mutation in a10 year old boy was presented with diffuse erythema and fine scaling of the body, mimicking autosomal congenital recessive ichthyosis