C152X_human-PPT1

General

Gene Locus : human-PPT1

Mode of mutation : Natural mutant

Disease : Infantile neuronal ceroid lipofuscinosis

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.(Cys152Ter) c.456C>A CM000565

References (1)

Title : Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL\;CLN1) - Salonen_2000_Hum.Mutat_15_273
Author(s) : Salonen T , Jarvela I , Peltonen L , Jalanko A
Ref : Hum Mutat , 15 :273 , 2000
Abstract :
PubMedSearch : Salonen_2000_Hum.Mutat_15_273
PubMedID: 10679943
Gene_locus related to this paper: human-PPT1