I300X_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 : JANUARY-02-2013

Comment :
p.I300X Ile300Ter c.898_*320del 1058 bp deletion that removed 63bp of exon 6, intron 7 and exon 7

References (1)

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