C233W_human-LIPH

General

Gene Locus : human-LIPH

Mode of mutation : Natural mutant

Disease : Hypotrichosis

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 : c.699C>G\; p.C233W\; p.Cys233Trp

References (1)

Title : A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1alpha in autosomal recessive wooly hair\/hypotrichosis -

Author(s) : Yoshizawa M , Nakamura M , Farooq M , Inoue A , Aoki J , Shimomura Y

Ref : J Dermatol Sci , 72 :61 , 2013

PubMedID: 23768866

Gene_locus related to this paper: human-LIPH

C233W_human-LIPH

General

References (1)

1. A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1alpha in autosomal recessive wooly hair\/hypotrichosis