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 : c.616ins\/del c.616_647delinsGGG In exon 4 at position 616, an insertion of 3 bp (GGG) followed by a deletion of 31 bp\; this leads to a frameshift of the open reading frame and the creation of a stop codon. Compound heterozygote with R312X T206RfsX7
| Title : Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome - Pujol_2005_Br.J.Dermatol_153_838 |
| Author(s) : Pujol RM , Gilaberte M , Toll A , Florensa L , Lloreta J , Gonzalez-Ensenat MA , Fischer J , Azon A |
| Ref : Br J Dermatol , 153 :838 , 2005 |
| Abstract : Pujol_2005_Br.J.Dermatol_153_838 |
| ESTHER : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedSearch : Pujol_2005_Br.J.Dermatol_153_838 |
| PubMedID: 16181472 |
| Gene_locus related to this paper: human-ABHD5 |