R234X_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 : NOVEMBER-15-2006

Comment :
p.R234X p.Arg234Ter c.700C>T in exon 5. A 42-year old patient with muscle weakness genital ichthyosiform erythroderma hearing loss bilateral subcapsular cataract. Compound heterozygote for p.H82R and p.R234X. A patient compound heterozygote for R280X in exon6 and R234X

References (3)

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

Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene - Redaelli_2010_Orphanet.J.Rare.Dis_5_33
Author(s) : Redaelli C , Coleman RA , Moro L , Dacou-Voutetakis C , Elsayed SM , Prati D , Colli A , Mela D , Colombo R , Tavian D
Ref : Orphanet J Rare Dis , 5 :33 , 2010
Abstract :
PubMedSearch : Redaelli_2010_Orphanet.J.Rare.Dis_5_33
PubMedID: 21122093
Gene_locus related to this paper: human-ABHD5

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