R280X_human-ABHD5

General

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.R280X Arg280Ter. A patient compound heterozygote for R280X in exon6 and R234X

References (1)

Title : Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome -
Author(s) : Takeichi T , Sugiura K , Tso S , Simpson MA , McGrath JA , Akiyama M
Ref : J Dermatol Sci , 81 :134 , 2016
PubMedID: 26547112
Gene_locus related to this paper: human-ABHD5